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Res. 2007;10:196–202.
138. Hong P, Graham E, Belyea J, et al. The long-term effects of
mandibular distraction osteogenesis on developing deciduous
molar teeth. Plast Surg Int. 2012;2012:913807.
139. Hollier LH, Kim JH, Grayson B, et al. Mandibular growth after
distraction in patients under 48 months of age. Plast Reconstr Surg.
1999;103:1361–1370.
140. Dauria D, Marsh J. Mandibular distraction osteogenesis for Pierre
Robin sequence: what percentage of neonates need it? J Craniofac
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141. Zeitouni A, Manoukian J. Tracheotomy in the first year of life. J
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142. Demke J, Bassim M, Patel MR, et al. Parental perceptions and
morbidity: tracheostomy and Pierre Robin sequence. Int J Pediatr
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143. Jiang D, Morrison GA. The influence of long-term tracheostomy
on speech and language development in children. Int J Pediatr
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144. Runyan CM, Uribe-Rivera A, Karlea A, et al. Cost analysis of
mandibular distraction versus tracheostomy in neonates with
Pierre Robin sequence. Otolaryngol Head Neck Surg. 2014;151:
811–818.
145. Hong P, Bezuhly M, Mark Taylor S, et al. Tracheostomy versus
mandibular distraction osteogenesis in Canadian children with
Pierre Robin sequence: a comparative cost analysis. J Otolaryngol
Head Neck Surg. 2012;41:207–214.
146. Denny AD, Amm CA, Schaefer RB. Outcomes of tongue-lip
adhesion for neonatal respiratory distress caused by Pierre Robin
sequence. J Craniofac Surg. 2004;15:819–823.
147. Antony AK, Sloan GM. Airway obstruction following palatoplasty:
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148. Patel KB, Sullivan SR, Murthy AS, et al. Speech outcome after
palatal repair in nonsyndromic versus syndromic Robin sequence.
Plast Reconstr Surg. 2012;130:577e–584e.

SECTION II • Craniofacial
37 
Treacher Collins syndrome
Fernando Molina
SYNOPSIS
■ Treacher Collins syndrome is a congenital craniofacial malformation
that involves the bone and soft tissues of the middle and lower facial
thirds. Specifically, the orbits, zygomaticomaxillary complex, and
mandible are affected.
■ Coloboma of the lower eyelids, inferior obliquity of the palpebral
fissures, lateral canthal dystopia, and notching of the upper eyebrows
and eyelids are characteristic.
■ Surgical reconstruction should include techniques to repair both
soft-tissue and skeletal deformities.
■ Parietal bone grafts are used to augment the malar eminence. Bilateral
distraction osteogenesis corrects hypoplasia of the mandibular ramus
and body with simultaneous improvement of respiratory and digestive
function.
■ Colobomas and macrostomia are repaired prior to bony reconstruction,
and microtia is treated between 9 and 10 years of age.
Access the Historical Perspective section online at

Introduction
The abnormal development of the first and second branchial
arches results in bilateral Tessier clefts 6, 7, and 8 with
the concomitant stigmata of Treacher Collins syndrome.
While Treacher Collins syndrome occurs as an autosomal-
dominant disorder in 1 per 50 000 live births, 60% of cases
arise as sporadic mutations. The syndrome is most suc-
cessfully treated in staged procedures addressing bone and
soft tissues.
Airway management is the primary concern when treating
infants born with Treacher Collins syndrome. The narrow
pharynx and short mandible may cause obstructive sleep
apnea and subsequent neonatal death. Early mandibular
distraction may avoid the need for tracheostomy in severely
affected neonates.
The malar region may be reconstructed with free calvarial
bone grafts. Bilateral mandibular distraction, with distraction
vectors carefully planned to improve the length of the ascend-
ing ramus, will correct micrognathia and an anterior open
bite. Orthodontic maneuvers will allow for growth of the
posterior vertical dimension of the maxilla.
Colobomas and macrostomia are repaired prior to bony
reconstruction. Microtia is usually corrected at approximately
9–10 years of age.
Basic science/disease process
Treacher Collins syndrome, or mandibulofacial dysostosis, is
a complex congenital craniofacial malformation that most
strikingly involves the middle and lower thirds of the face,
affecting both bony structures and soft tissues. It is transmit-
ted by an autosomal-dominant gene of variable penetrance
and phenotypic expressivity. The severity of the disease
increases in successive generations.7,8 Half of the cases reported
in the literature do not have a documented family history, and
thus an influence of exogenous factors on expressivity of the
mutation may be inferred. Advanced paternal age is consid-
ered a risk factor. These genetic anomalies cause bilateral
defects in structures derived from the first and second bran-
chial arches.
Diagnosis/patient presentation
Patients with mandibulofacial dysostosis may present with
all or most of the following features (Box 37.1): an inferior
obliquity and shortening of the palpebral fissures, coloboma
of the lower eyelids, dystopia of the lateral canthi, absence of
eyelashes, and notching of the eyebrows and upper eyelids.
The craniofacial skeleton is also involved: the malar bone is

839.e1
Historical perspective
Historical perspective
From the description by Thompson (1846) – reconfirmed by
Gorlin – to that by Berry (1889), Treacher Collins (1900), and
Pires de Lima (1944),1–3 this disease entity has been widely
studied. The French and European literature refers to this
constellation of findings as Franceschetti–Klein syndrome.4,5
Franceschetti and Klein described various details of this
malformation and first called it “mandibular facial dysosto-
sis”; they proposed a classification with three different degrees
of severity: complete, incomplete, and abortive. Tessier6
described the syndrome as the bilateral confluence of 6, 7, and
8 clefts, which, depending on the degree of severity, could
affect the zygoma, resulting in its hypoplasia or absence.
Intelligence is usually normal (see Fig. 37.1).

840
SECTION II
CHAPTER 37 • Treacher Collins syndrome
The lateral cephalogram demonstrates normal upper ante-
rior face height with a reduced posterior face height, resulting
in a vertical occlusal plane and shortening of the choanae. The
sphenoethmoid angle is more acute, and the angle between
the anterior cranial base and the palatal plane is more obtuse.
Mandibular retrognathism is present, with shortening of the
ramus and the body of the mandible. The chin is long and
retruded.10
The absence of the zygomatic bone is responsible for the
absence of the lateral orbital rim and for the poor definition
of the inferior orbital rim. For the same reason, there is no
clear separation between the orbital cavity, the temporal fossa,
and the infratemporal fossa. Generally, bony deformity is
always symmetrical. The zygomatic arches are hypoplastic or
absent, and the aponeurosis of the hypoplastic temporal
muscle is in direct continuity with the aponeurosis of the
masseter muscle.11
hypoplastic or absent, along with the zygomatic arch. The
maxilla is narrow and underprojected, with a high and narrow
palate. The mandible is hypoplastic with a severe shortening
of the ascending ramus; the condyle is also severely affected.
The chin is long and retruded; the mandibular body is short
and typically features an exaggerated antegonial notch.
Micrognathia of different degrees is also observed, with an
anterior open bite. The nose is protruded and broad with
a flattened frontonasal angle. Other clinical features include
ear deformities or microtia, absence of the external audi-
tory canal, anomalies of the middle ear, and macrostomia
(Fig. 37.1).9
Radiographically, the Waters and posterior–anterior views,
as well as frontal tomograms, show hypoplasia of the malar
bones and partial or complete absence of the zygomatic
arches. The shape of the orbits is abnormal secondary to the
partial or total absence of the lateral wall and floor of the
orbits.
BOX 37.1  Characteristic clinical features of Treacher Collins
syndrome
Eyelids
• Antimongoloid obliquity of palpebral fissures
• Coloboma of lower eyelids
• Dystopia of lateral canthi
• Shortening of palpebral fissure
• Absence of eyelashes
• Notching of eyebrows and upper eyelids
Orbits
• Inferior portion of lateral wall is often absent
• Inferior migration of superolateral portion of frontal bone
Malar bone
• Hypoplastic or absent
• Absence of zygomatic arch
Maxilla
• Narrow and underprojected
• High and narrow palate
Mandible
• Hypoplastic
• Vertical occlusal plane
• Class III malocclusion with anterior open bite
• Long and retruded chin
Nose
• Protruded with a broad base
• Flattened frontonasal angle
• Narrow pharynx
Others
• Microtia and ear deformities
• Absence of external auditory canal
• Abnormalities of middle ear
• Macrostomia
• Possible velopharyngeal insufficiency
Fig. 37.1  (A) A 7-year-old boy with Treacher Collins syndrome presenting with
severe coloboma of the lower eyelids, hypoplastic maxilla, and underprojected and
narrow maxilla. There is bilateral microtia and macrostomia. The mandible shows
severe hypoplasia, including at the menton. (B) 3D computed tomography scan,
showing the absence of the zygoma and malar bone and the lack of the inferolateral
orbital floor. The mandible has a very short ascending ramus, and the posterior
aspect of the maxilla is also very short vertically.
A
B

841
Treatment and surgical technique
According to Tessier, the zygomatic bone is absent because
of the confluence of clefts 6, 7, and 8. The number 6 cleft is
situated between the maxilla and the zygomatic bone, opening
the infraorbital fissure. The number 7 cleft is a temporozygo-
matic cleft accounting for the malformations of the ears and
the macrostomia. The number 8 cleft involves the frontozygo-
matic suture (Fig. 37.2).6 There exists a wide spectrum of
phenotypic expressivity, and some clinical features are present
in a less evident fashion. Similarly, there are asymmetric cases
resulting from different penetrance of the deformity on each
side of the face.
Computed tomographic scans with 3D reconstruction
show the affected bone structures in detail. Recently, virtual
surgical planning (VSP) computer programs are very useful
in the sequence of bone reconstruction, especially in more
severe patients.
Patient selection
A careful physical exam is required to ensure an adequate
functional assessment of the retropharyngeal space. Sig-
nificant micrognathia can produce respiratory distress,
and some patients require a tracheostomy or mandibular
distraction at a very early age. It is also important to assess
hearing and speech. Dental impressions must be obtained
to plan mandibular or maxillomandibular procedures in
older patients.
Treatment and surgical technique
Treatment is aimed at correcting the colobomas; reconstruct-
ing the malar bones and zygomatic arches; establishing an
adequate maxillomandibular relationship with functional
occlusion; harmonizing the profile by improving the propor-
tional relationship between the different regions of the face;
and correcting the auricular malformations and macrostomia.
Surgical intervention is divided into four stages. The first
stage includes the correction of functional emergencies when
present. Respiratory distress is addressed with mandibular
distraction or tracheostomy very early in life. Corneal expo-
sure is addressed with eyelid reconstruction. The second stage
of reconstruction consists of zygomaticomaxillary reconstruc-
tion with cranial bone grafts.12,13 Generally, these procedures
are performed between 2 and 4 years of age. The third stage
of reconstruction, mandibular distraction, is performed
between 3 and 6 years of age. The goal is bilateral elongation
of the ascending ramus and closure of the anterior open
bite.14,15 The fourth stage is distraction osteogenesis of the
reconstructed zygomaticomaxillary complexes and lateral
orbits. This distraction should be performed when zygomati-
comaxillary growth is observed to be the limiting factor in
global craniofacial growth. This stage is frequently performed
between 5 and 8 years of age.
Colobomas
Colobomas usually occur in the lower eyelid and are full-
thickness defects. Reconstruction should therefore include all
eyelid components. The most popular procedure consists of a
myocutaneous flap from the superior eyelid transposed down
to cover the defect in the inferior eyelid. Essentially, a Z-plasty
is designed along the borders of the coloboma (Fig. 37.3), the
defect is defined in the inferior eyelid, and the superior eyelid
flap is raised and transposed into the inferior defect. A release
of the orbital septum and the lateral canthal ligament is
mandatory to correct the position of the lateral canthus. A
tarsoconjunctival reconstruction is seldom required.
Zygoma
Zygomaticomaxillary reconstruction has undoubtedly re-
ceived most of the attention from experts on this topic. Various
alloplastic and autologous materials, including silicone,
dermis-fat grafts, cartilage grafts, and many others, have been
used with varying degrees of success for this reconstruction.
Many believe that calvarial bone grafts are the best option for
the reconstruction of the zygomatic arch and malar bone.
Some characteristic challenges of this procedure include: the
large amount of bone required; bone grafts must be adapted
to the contour of the defect; the new bone structure must
achieve the necessary projection; and secondary bone resorp-
tion must be avoided.12,13,16–18
The parietal bone is the author’s preferred donor site. A
paper template is made, including the malar bone, zygomatic
arch, and the lateral aspect of the orbit. The template is used
to design bilateral bone grafts, each as a single unit, from both
parietal regions. The curvature of the donor region will be
used to achieve natural contour and projection of the new
zygomaticomaxillary structure. The left parietal region is used
Fig. 37.2  According to Tessier’s classification, the confluence of craniofacial clefts
6, 7, and 8 produces the hypoplasia or absence of bony structures, including the
zygoma, orbit, maxilla, and ascending ramus of the mandible.

842
SECTION II
CHAPTER 37 • Treacher Collins syndrome
Fig. 37.4  Using a template, a bicortical parietal bone graft is harvested. The right
graft will be transferred to the left zygomaticomaxillary region. The natural curvature
of the bone will produce an excellent projection of the reconstructed region.
Fig. 37.5  The free parietal bone graft is fixed with 3–4 screws to the deeper bone
structures. The bone graft should be adapted to the contour of the receiving bone to
reduce bone resorption.
A
Fig. 37.3  (A) Procedure for coloboma correction. Planning for a simultaneous
rotation upper eyelid myocutaneous flap is outlined. (B) The result after the flap
rotation, including the lateral canthopexy. The ligament has been reattached
4–5 mm superior to its original insertion.
B
to reconstruct the right side of the face and vice versa (Fig.
37.4). The free bone grafts are fixed to the subjacent bone
structure at the orbit and the maxilla with 3–4 screws, 16 mm
in length. This is usually sufficient for stable immobilization.
The new zygomatic arch should reach laterally to the bone
ridge at the external auditory canal. In addition to the rigid
fixation, the posterior surface of the graft should have good
contact with the masseter muscle and the rest of the local soft
tissues such that bony resorption is minimized (Fig. 37.5). In
addition, a subperiosteal suspension of the cheek soft tissues
is performed with 3–4 monofilament sutures attached to the
temporalis. If necessary, the lateral canthus is resuspended at
this time.
With these techniques, a natural appearance is restored to
the zygomaticomaxillary region with good contour and excel-
lent projection. The subperiosteal suspension of overlying soft

843
Treatment and surgical technique
ing mainly the ramus and the body, both in form and volume.
For these patients, a bidirectional, bilateral solution is required.
In these cases, two corticotomies are performed: a vertically
oriented one in the mandibular body and a horizontally ori-
ented one in the ascending ramus. Three pins are used: a
central one at the mandibular angle, a second in the mandibu-
lar body, and a third in the central aspect of the ascending
ramus. One bidirectional distraction device is used on each
side, each with two distraction rods to allow independent,
precise elongation of each segment. The central pin acts as a
fixed pivot point for distraction of the ramus and body
(Fig. 37.7).
tissues adds volume to the region and redraping of the peri-
orbital skin produces an aesthetic result (Fig. 37.6).
In the past, composite temporoparietal flaps had been
widely used; however, the muscle is always hypoplastic and
its rotation produced secondary depression at the external
temporal fossa.13,17,18 This procedure also sacrificed precise
shaping of the osteomuscular flap to preserve vascularity.
Even so, with this technique, only 60% of the muscle’s contact
with underlying bone can be maintained. This does not rep-
resent a considerable blood supply if we consider that 80% of
the blood supply of cranial bones comes from the dura mater
and only 20% is derived from the periosteum.
Mandible
Micrognathia in Treacher Collins presents a unique problem
in which the mandibular anatomy is hypoplastic in all dimen-
sions. Moreover, patients suffer from chronic respiratory and
digestive problems. The deformity is usually bilateral, affect-
A
Fig. 37.6  (A) Preoperative frontal view of a 7-year-old boy presenting with all the
characteristic features of severe Treacher Collins syndrome. (B) Postoperative result
after bilateral zygomaticomaxillary reconstruction and coloboma correction. Notice
the new structure at the bizygomatic distance. Bilateral bidirectional mandibular
distraction has also been performed.
B
Fig. 37.7  (A) The corticotomies performed at each side of the mandible. Notice
the position of pin insertion at the ascending ramus, the angle, and the mandibular
body. Also note the relationship that should be obtained between the vertical and
horizontal distraction vectors. (B) Once elongation of the ascending ramus has
been obtained, an important posterior open bite will be produced. The use of bite
blocks is gradually diminished to allow for the vertical growth of the posterior
maxilla.
A
90°
B

844
SECTION II
CHAPTER 37 • Treacher Collins syndrome
mouth are elongated, as are the masticatory muscles, and the
chin takes on a more prominent position. These anatomic
changes reconstruct the inferior third of the face, lending
improved proportionality to the entire face. Once a more
normal size and shape of the mandible have been achieved,
these patients are able to open their mouths to receive orth-
odontic and dental treatment. Additionally, we have noted
improvements in deglutition and respiration. Often, those
patients with tracheostomies can be decannulated, and those
with feeding tubes are routinely converted to oral feeding.
Distraction of zygomaticomaxillary region
At 7–10 years of age, the grafted zygomaticomaxillary com-
plexes are distracted. The orbitomalar-zygomatic region can
be accessed via a coronal approach. An osteotomy is designed
to include the zygomatic arch, the posterior aspect of the
malar bone, the inferior third of the lateral orbital wall, and
the inferior orbital rim medially to the infraorbital foramen.
A buried distraction device is fixed to the parietal bone, and
its tip is anchored to the posterior aspect of the malar emi-
nence. After 5 days of latency, activation of the device begins
at a rate of 1 mm/day. New bone formation is observed and
a well-defined malar structure is the result (Fig. 37.9).
Orthognathic procedures
For selected adult patients, classical osteotomies with a com-
bination of midface rotation and mandibular lengthening are
still utilized.19 With a Le Fort III osteotomy, the midface is
rotated and placed in proper relationship to the mandible
using the frontonasal angle as a fulcrum (Fig. 37.10). As a
result, the maxilla has a more pronounced anterior projection.
It also approximates a more appropriate horizontal plane,
Elongation of the ascending ramus produces an important
posterior open bite. At the body, the lengthening is minimal:
just enough to overcorrect the molar relationship and to close
the classic anterior open bite of the deformity. Precisely
planned distraction vectors are critical to obtaining the proper
degree of mandibular elongation and resultant occlusal
changes. The relationship between the vertical (ramus) and
the horizontal (body) vectors has to be less than 90°. These
vectors will produce an exaggerated counterclockwise man-
dibular rotation closing the open bite and creating an open
bite between the retromolar region and the posterior aspect
of the maxilla. Posterior bite blocks are placed and gradually
reduced in the vertical dimension to control growth of the
posterior maxilla, closing the open bite by increasing the
posterior maxillary vertical dimension.
Most of these patients present with a typical facial convex-
ity with deficient soft tissue of the lower third of the face and
neck, absence of definition in the submental angle, and short-
ened suprahyoid muscles. Patients with the most severe
phenotype are frequently tracheostomy-dependent, and the
ability to open their mouth is minimal or nonexistent. With
bone distraction, all tissues from skeleton to skin are simulta-
neously elongated without the inconvenience of bone grafts
or tissue expansion. In contrast, after conventional osteoto-
mies and bone grafts, the contracted muscles and overlying
soft-tissue envelope act as a counterforce to the bony advance-
ment, often causing bony relapse and necessitating multiple
procedures to achieve optimal aesthetic results. Tissue expan-
sion increases the amount of skin, but other soft tissues such
as muscles, vessels, and nerves remain unchanged.
The overall functional and aesthetic results with bidirec-
tional mandibular distraction are satisfying (Fig. 37.8). The
neck takes on a more normal shape with a well-defined sub-
mental angle, the muscles and soft tissues of the floor of the
Fig. 37.8  (A) Preoperative view of a 3-year-old girl with Treacher Collins syndrome. Coloboma correction has already been performed. (B) Postoperative view at 5 years
old. The bilateral bidirectional mandibular distraction has reconstructed the inferior portion of the face. The rotation of the mandible has closed the anterior open bite.
(C) Postoperative view at 22 years old. The maxilla and the mandible show a nearly normal relationship, demonstrating the kind of craniofacial growth obtained after
mandibular distraction and functional orthodontics. The grafted zygomaticomaxillary region, however, demonstrates delayed growth. This situation is likely to be corrected
using zygomaticomaxillary distraction and a series of fat injections.
A
B
C

845
Treatment and surgical technique
Fig. 37.9  (A) Preoperative view of a 2-year-old boy with classic Treacher Collins syndrome. (B) At 7 years old, after coloboma correction, zygomaticomaxillary bone
grafting, mandibular distraction, and ear reconstruction. (C) At 16 years old, after distraction, new bone formation has produced excellent zygomaticomaxillary volume. Two
sessions of fat injection have obtained excellent facial contour and definition.
A
B
C
A
B
Fig. 37.10  (A) Procedure combining midface rotation and mandible lengthening as proposed by Tessier. (B) At the first stage of the surgical procedure, the mandible is
elongated and the position of the menton is corrected.
Continued

846
SECTION II
CHAPTER 37 • Treacher Collins syndrome
allowing greater lengthening of the mandible, both vertically
and sagittally. Unfortunately, the tight soft-tissue envelope
sometimes restricts bony repositioning and can be a significant
cause of relapse.
Postoperative care
Orthodontic manipulation is absolutely necessary to obtain
the final functional occlusion. The use of orthodontic elastics
during the consolidation period allows for “callus” manipula-
tion, properly positioning the mandible in relation to the
maxilla. Intraoral myofunctional devices, such as the Fränkel
III appliance, are used long term to maintain the bone struc-
tures and teeth in an excellent relationship.
Secondary procedures
To define the final contour of the cheeks, zygomatic region,
and gonial angle, fat grafting is becoming a very important
adjunctive technique. In our experience, fat grafting is indi-
cated after 15 years of age to provide the final refinement of
soft-tissue contour and volume (Fig. 37.11). With an atrau-
matic technique, fat is harvested from the abdomen and
decanted – preserving growth factors and stem cells. Small
parcels of fat are grafted in different planes: the supraperios-
teal (30%), muscle (50%), and subcutaneous (20%). In total,
15–20 cc of fat is injected in each side. The procedure is often
repeated 2–3 times, at intervals of 4 months between each, to
obtain stability of grafted fat.
Fig. 37.11  (A) Preoperative fontal view of a 3-year-old girl. Severe colobomas, hypoplastic zygomaticomaxillary region, micrognathia, and anterior open bite are present.
(B) At 5 years old, after zygomaticomaxillary bone grafting and bilateral bidirectional mandibular distraction. Notice the new bone structure at the bizygomatic areas and the
inferior third of the face. (C) Postoperative view at 20 years old; fat volume has been added, three times to the malar eminences after distraction osteogenesis of the bone
grafts. Final permanent refinements of the facial contour have been obtained with fat grafting.
A
B
C
C
(C) The second stage of the procedure includes the midface
osteotomy, adapting the occlusion to the new dimension of the mandible.
Additional calvarial bone grafts can be added to the orbit and zygoma.
Fig. 37.10, cont’d

847
Secondary procedures
1. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. 3rd
ed. New York: Oxford University Press; 1990.
3. Treacher Collins E. Case with symmetric congenital notches in the
outer part of each lid and defective development of the malar
bones. Trans Ophthalmol Soc UK. 1900;20:109.
4. Franceschetti A, Zwahlen P. Un Syndrome nouveau: La dysostose
mandibulo-faciale. Bull Schweiz Akad Med Wiss. 1944;1:60–66.
6. Tessier P. Vertical and oblique facial clefts (orbitofacial fissures). In:
Mustarde JC, ed. Plastic Surgery in Infancy and Childhood.
Philadelphia: WB Saunders; 1971:94.
10. Garner L. Cephalometric analysis of Berry–Treacher Collins
syndrome. Oral Surg Oral Med Oral Pathol. 1967;23:320–327.
11. Marsh JL, Celin SE, Vannier MW, et al. The skeletal anatomy of
mandibulofacial dysostosis (Treacher Collins syndrome). Plast
Reconstr Surg. 1986;78:460–470. This paper is an observational study of
3D craniofacial CT scans of patients with Treacher Collins syndrome. The
authors find that the zygomatic process of the temporal bone is the most
frequently aplastic component of these patients’ craniofacial skeletons.
13. McCarthy JG, Zide BM. The spectrum of calvarial bone grafting:
introduction of the vascularized calvarial bone flap. Plast Reconstr
Surg. 1984;74:10–18. The authors describe traditional methods of bone
grafting. A vascularized calvarial flap (based on the temporal vessels) is
then presented; it is noted that vascularized bone flaps are ideal for
devitalized recipient sites, such as may be encountered in midface
reconstruction for Treacher Collins syndrome.
14. Molina F, Ortiz Monasterio F. Extended indications for mandibular
distraction: unilateral, bilateral and bidirectional. International
Craniofacial Congress. 1993;5:79.
15. Molina F, Ortiz Monasterio F. Mandibular elongation and
remodeling by distraction: A farewell to major osteotomies. Plast
Reconstr Surg. 1995;96:825–842. The authors discuss a novel
corticotomy-based method for mandibular distraction. Improved facial
symmetry was noted in their cohort, with no observed relapse.
18. Van der Meulen JCH, Hauben DJ, Vaandrager JM, et al. The use of
a temporal osteoparietal flap for the reconstruction of malar
hypoplasia in Treacher Collins syndrome. Plast Reconstr Surg.
1984;74:687–693. The temporalis muscle provides an axial vascular
supply to the temporal periosteal bone flap described in this paper. The
osseous component of the flap may seed further bone growth when this
flap is used for malar reconstruction in patients with Treacher Collins
syndrome.
19. Tessier P, Tulasne JF. Treacher Collins syndrome. Combined rotation
of the midfacial segment and mandibular lengthening. In: Marchac
D, ed. Craniofacial Surgery. Berlin: Springer-Verlag; 1987:369.
Access the complete reference list online at

847.e1
References
References
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ed. New York: Oxford University Press; 1990.
2. Berry GA. Note on a congenital defect of the lower lid. R Lond Hosp
Rep. 1889;12:255.
3. Treacher Collins E. Case with symmetric congenital notches in the
outer part of each lid and defective development of the malar
bones. Trans Ophthalmol Soc UK. 1900;20:109.
4. Franceschetti A, Zwahlen P. Un Syndrome nouveau: La dysostose
mandibulo-faciale. Bull Schweiz Akad Med Wiss. 1944;1:60–66.
5. Franceschetti A, Klein D. The mandibulofacial dysostosis: a new
hereditary syndrome. Acta Ophthalmol. 1949;27:143–224.
6. Tessier P. Vertical and oblique facial clefts (orbitofacial fissures). In:
Mustarde JC, ed. Plastic Surgery in Infancy and Childhood.
Philadelphia: WB Saunders; 1971:94.
7. Dixon MJ. Treacher Collins syndrome. Hum Mol Genet. 1996;5:
1391–1396.
8. Teber AO, Gillessen-Kaesbach G, Fisher S, et al. Genotyping in 46
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9. Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher
Collins syndrome. Cleft Palate J. 1971;28:226–231.
10. Garner L. Cephalometric analysis of Berry–Treacher Collins
syndrome. Oral Surg Oral Med Oral Pathol. 1967;23:320–327.
11. Marsh JL, Celin SE, Vannier MW, et al. The skeletal anatomy of
mandibulofacial dysostosis (Treacher Collins syndrome). Plast
Reconstr Surg. 1986;78:460–470. This paper is an observational study of
3D craniofacial CT scans of patients with Treacher Collins syndrome. The
authors find that the zygomatic process of the temporal bone is the most
frequently aplastic component of these patients’ craniofacial skeletons.
12. Casanova R, Cavalcante D, Grotting JC, et al. Anatomic basis for
vascularized outer-table calvarial bone flaps. Plast Reconstr Surg.
1986;78:300–308.
13. McCarthy JG, Zide BM. The spectrum of calvarial bone grafting:
introduction of the vascularized calvarial bone flap. Plast Reconstr
Surg. 1984;74:10–18. The authors describe traditional methods of bone
grafting. A vascularized calvarial flap (based on the temporal vessels) is
then presented; it is noted that vascularized bone flaps are ideal for
devitalized recipient sites, such as may be encountered in midface
reconstruction for Treacher Collins syndrome.
14. Molina F, Ortiz Monasterio F. Extended indications for mandibular
distraction: unilateral, bilateral and bidirectional. International
Craniofacial Congress. 1993;5:79.
15. Molina F, Ortiz Monasterio F. Mandibular elongation and
remodeling by distraction: A farewell to major osteotomies. Plast
Reconstr Surg. 1995;96:825–842. The authors discuss a novel
corticotomy-based method for mandibular distraction. Improved facial
symmetry was noted in their cohort, with no observed relapse.
16. Raulo Y. Treacher Collins syndrome: Analysis and principles of
surgery. In: Caronni E, ed. Craniofacial Surgery. Berlin: Springer-
Verlag; 1985:9371.
17. Vaandrager JM. Composite frontal bone flap for bony
reconstruction in Treacher Collins syndrome and hemifacial
microsomia. In: Marchac D, ed. Craniofacial Surgery. Berlin:
Springer-Verlag; 1987:364.
18. Van der Meulen JCH, Hauben DJ, Vaandrager JM, et al. The use of
a temporal osteoparietal flap for the reconstruction of malar
hypoplasia in Treacher Collins syndrome. Plast Reconstr Surg.
1984;74:687–693. The temporalis muscle provides an axial vascular
supply to the temporal periosteal bone flap described in this paper. The
osseous component of the flap may seed further bone growth when this
flap is used for malar reconstruction in patients with Treacher Collins
syndrome.
19. Tessier P, Tulasne JF. Treacher Collins syndrome. Combined rotation
of the midfacial segment and mandibular lengthening. In: Marchac
D, ed. Craniofacial Surgery. Berlin: Springer-Verlag; 1987:369.

SECTION III • Pediatrics
38 
Congenital melanocytic nevi
Sara R. Dickie, Neta Adler, and Bruce S. Bauer
SYNOPSIS
■ Congenital melanocytic nevi (CMN) are composed of clusters of
nevomelanocytes that are generally present at birth but occasionally
arise as late as several years of age. These lesions arise from
melanocytic stem cells that migrate from the neural crest to the
embryonic dermis and upward into the epidermis. They may also
migrate into the leptomeninges.
■ Although the bulk of these lesions are small and benign, some cover
large portions of the body or can be in conspicuous locations, and
may create an aesthetically displeasing appearance, resulting in
psychological issues. Furthermore, their potential for malignant
degeneration causes anxiety for the parent, primary care physician,
and surgeon alike.
■ Small pigmented nevi are present in 1 in 100 births; large nevi are
present in only 1 in 20 000 births; and the giant lesions are even less
common. As a result, most surgeons have little experience with them
and little opportunity to develop a rational protocol for their treatment.
Introduction
Congenital melanocytic nevi (CMN) consist of clusters of
nevomelanocytes that develop in utero. Although many con-
genital nevi are visible at birth, some are “tardive”, probably
because they are too small to be detected at birth or do not
have sufficient melanin.1,2 CMN are one of the risk factors for
eventual development of cutaneous and extracutaneous mela-
noma, with larger nevi having greater risk. Based on that,
CMN are historically classified according to their estimated
largest diameter in adulthood. Small nevi are up to 1.5 cm;
medium are 1.5–19.9 cm; and large nevi are those with esti-
mated diameter of more than 20 cm. Giant nevi are 40 cm or
larger. Newer classification takes into account size, location,
various phonotypical features, and presence of satellite nevi.3
Congenital nevi present in approximately 1% of births;4 large
CMN occur in approximately 1 : 20 000 births; and giant lesions
(>40 cm) are 1 in 500 000.5
While most surgeons are familiar with treating the small
and intermediate-sized nevi, it is difficult to gain enough
experience when approaching more extensive lesions.
Many strategies have been tried for removal and recon-
struction of large and giant nevi. When direct excision and
primary closure are not a possibility, then tissue expansion is
the “workhorse” treatment modality for many medium to
large nevi. Facial nevi that cross multiple aesthetic units as
well as involving the periorbital area may require expansion
in combination with full-thickness skin graft (expanded or
non-expanded). Some unique cases may benefit from a free
flap and tissue expansion as an adjunct procedure to close the
donor site.
Access the Historical Perspective section online at

Basic science/disease process
The etiology of CMN remains unclear. The development of
CMN is determined in utero between 5 and 24 weeks’ gesta-
tion. One of the theories of melanocyte differentiation is that,
as the neural tube develops during early embryogenesis,
melanoblasts migrate from the neural crest along the lep-
tomeninges to the embryonic dermis.6 From the embryonic
dermis, the progenitor melanocytic cells migrate into the epi-
dermis, where they differentiate into dendritic melanocytes.
Dysregulated migration, proliferation, and differentiation
of melanocytes in the skin and leptomeninges are implicated
in the pathogenesis of CMN and neurocutaneous melanosis
(NCM).8,9
Several molecular signaling pathways have been associ-
ated with the pathogenesis of CMN. Melanocyte development
appears partially under the control of c-met and c-kit proto-
oncogenes, which encode met and kit proteins, respectively.
Hepatocyte growth factor (HGF), also known as scatter

848.e1
Historical perspective
Historical perspective
Initial reports of giant congenital nevus were descriptive: in
1832, a giant nevus was first mentioned in Alibert’s Monograph
of Dermatology,6 where it was described as a “waist coat and
drawers type naevus”. In 1861, the great Austrian pathologist
Karl Rokitansky described a patient with giant congenital
nevi in the Allgemeine Wiener medizinische Zeitung (Vienna
General Medical Journal).7
Many techniques were described for treating congenital
nevi. Since the introduction of tissue expansion, it has become
invaluable in the reconstruction of extensive skin defects after
surgical excision of giant congenital nevi.

849
Diagnosis/patient presentation
fest themselves as seizures, developmental delay, hydrocepha-
lus, and delayed motor development.
Rarely, other tumors, such as rhabdomyosarcoma and
liposarcoma, are associated with CMN.
Diagnosis/patient presentation
Historically, CMN have been categorized by predicted adult
diameter as the lone criterion to differentiate one lesion
from another. With increasing understanding of the genetic
make-up of these lesions and improved, prospective data
collection techniques, efforts have been made to standardize
the classification system. In 2012, Krengel et al., proposed
a schema that has been widely accepted by many experts
in the field of CMN (Table 38.1).3 By using a standardized
factor (SF), is a multifunctional regulator of epithelial cells
expressing the tyrosine kinase receptor encoded by c-met.
Overexpression of HGF/SF, which is a ligand for the met
protein receptor, is implicated in perturbations of melanocyte
proliferation, differentiation, survival, and migration.10 Trans-
genic mice overexpressing HGF/SF are born with cutaneous
and leptomeningeal melanocytosis.11 HGF/SF also functions
in regulating the migration and differentiation of premyo-
genic cells during embryogenesis.11 It has been shown that
overexpression of this signaling molecule in mice may lead
to rhabdomyosarcoma,12 a tumor that on rare occasions also
arises in patients with large CMN.13,14 Furthermore, studies
with met null mice suggest that met plays a role in NCM,
because met knockout mice do not develop NCM.12 Overex-
pression of HGF/SF and/or met, and sustained activation of
met, could explain the mechanism of cutaneous and lepto-
meningeal melanoma and rhabdomyosarcoma development
in individuals with CMN. C-kit, a proto-oncogene that encodes
the kit tyrosine kinase receptor for the ligand known as SCF,
also plays a role in melanocyte development. In tissue cell
culture, c-kit-expressing neural crest cells give rise to clones
containing only melanocytes.15 Proliferative nodules, consist-
ing of aggregates of epithelioid or spindled immature benign
melanocytes in the dermis of CMN, highly express c-kit.16
Moreover, kit can activate N-RAS, which is an oncogene that
is mutated in some cases of nodular melanoma.17
Recently, mutations within two oncogenes have been
identified within most CMN. Mutations within N-RAS and
B-RAF appear to be mutually exclusive to one another and
present in up to 85% of lesions.18 Identical mutations in N-RAS
codon Q61 have been found in affected skin lesions and the
CNS of patients with NCM, but not in their non-lesional
skin.19 This mosaicism might indicate a somatic versus a
germline mutation of these oncogenes. BRAF may be more
prevalent in patients with NCM.18 The identification of these
mutations and further research show promise for the develop-
ment of gene therapies.
The exact risk for development of melanoma in CMN is
not clear. While the absolute lifetime risk for the incidence
of melanoma in patients with large CMN is reported to be
lower than previously thought, around 2–5%,20–23 the highest
risk group in this population is children with giant bathing
trunk nevi (12% of CMN >60 cm).24 Patients with small and
medium-sized CMN have a lower risk of melanoma, with a
reported absolute risk of <1%.24,25 Many articles discussing the
issue of relative risk of melanoma do not differentiate between
cutaneous and extracutaneous melanoma and the presence
of NCM may be the greater risk factor in subsequent risk of
malignancy.
Neurocutaneous melanosis is characterized by an excess
deposition of melanocytes along the leptomeninges (Fig.
38.1). It can occur in both patients with large CMN and those
with multiple small or medium-sized CMN. Patients with
large CMN located on the posterior axis are thought to have
greater risk for NCM but, on a multivariate analysis, the only
risk factor for NCM in patients with large congenital nevi is
having multiple satellite nevi: >20 satellites had a 5.1-fold
increased risk for NCM compared with patients with fewer
satellites.26 The true incidence is not known, but symptomatic
NCM may affect 6–11% of patients with large CMN. Symp-
tomatic NCM has a poor prognosis. Symptoms frequently
present in early childhood. Neurologic symptoms can mani-
A
Fig. 38.1  (A) This child with near-total body nevus shows marked variation in
nevus thickness, color, and surface architecture. Multiple areas of thick, neural
nevus are present. (B) A T1-weighted image on magnetic resonance imaging
demonstrates several lesions typical of neurocutaneous melanosis.
B

850
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
however, patients with larger lesions may present with
pruritus, xerosis, skin fragility, erosions, or ulcerations
and decreased ability to sweat from the involved skin
(Fig. 38.2).
A review of dermoscopy patterns in congenital nevi found
that most nevi demonstrate a reticular, globular, or reticulo-
globular pattern. The findings varied with age and the ana-
tomic location of the nevus, with the globular pattern found
more often in younger children and the reticular pattern
found in patients aged 12 years or older.27
Because of the increased risk of melanoma associated with
congenital nevi, attempts have been made to distinguish
congenital nevi from acquired nevi on the basis of histology.
Distinguishing histologic features include: (1) involvement by
nevus cells of deep dermal appendages and neurovascular
structures (including hair follicles, sebaceous glands, arrector
pili muscles, and within walls of blood vessels); (2) extension
of nevus cells to deep dermis and subcutaneous fat; (3) infil-
tration of nevus cells between collagen bundles; and (4) a
nevus cell-poor subepidermal zone.28–30 In contrast to con-
genital nevi, acquired nevi are usually composed of nevus
cells that are limited to the papillary and upper reticular
dermis and do not involve the appendages.
In cases associated with a high index of suspicion for the
presence of NCM, magnetic resonance imaging of the central
nervous system is a useful diagnostic tool (see Fig. 38.1B).
Patient selection
The treatment of large and giant nevi is controversial.
Although the risk of malignant transformation in congenital
pigmented nevi is well established,21,31–34 many feel that the
risk of developing melanoma is too low to warrant the
unsightly scars or grafts that may follow treatment. There is
no evidence in the literature that demonstrates decrease in
occurrence of melanoma after excision of large congenital
melanocytic lesions. Furthermore, these patients have an
increased risk of extracutaneous melanoma.34,35 Others feel
that, in the presence of NCM, the greatest risk lies within the
central nervous system, so the excision of the cutaneous lesion
can only have limited benefits. However, the appearance of
these lesions clearly produces a stigma with significant
psychological implications. The challenge for the surgeon
involved in treating these often-complex lesions is to develop
treatment modalities that not only accomplish the excision of
all or most of the nevus but also lead to an optimal aesthetic
and functional outcome.
Although the lifetime risk of malignant melanoma for
small and medium congenital pigmented nevi is reported to
be 0–4.9%,36 the risk of melanoma is nearly nil prior to puberty
for small nevi,37,38 and so one may comfortably wait until the
child is old enough to excise the lesion under local anesthesia.
If the lesion is located in an area where the excision and
reconstruction may not likely be accomplished under local
anesthesia, or where there may be the possibility of a better
final scar with earlier excision, then early excision under
general anesthesia may be warranted. Certainly, many nevi
positioned in prominent parts of the face may present as a
significant source of peer ridicule starting quite early in the
school years, and delaying the excision in an effort to avoid a
general anesthetic is not in the child’s best interest.
system to describe these highly variable lesions, clinicians
and researchers will be able to correlate morphogenic features
with the molecular-genetics underlying this rare disease,
eventually leading to improved treatment methods, targeted
gene therapy, and better understanding of nevomelanocyte
behavior.
Small to medium-sized CMN usually present as round to
oval homogeneous pigmented lesions, light to dark brown
in color, with sharply demarcated borders, rugous surface,
and hypertrichosis. However, larger CMN, in particular, may
show asymmetry, irregular borders, multicolored pigment
pattern, rugous texture, and a nodular surface. In addition,
large CMN are often associated with many smaller satellite
nevi. As the child grows, especially at puberty, the CMN may
change color, becoming lighter or darker, developing hair,
becoming more heterogeneous or more homogeneous. CMN
may spontaneously regress, and some patients may develop
vitiligo. Nodular proliferation may be present from birth
or develop at a later age. CMN are usually asymptomatic;
Table 38.1  A schema to standardize the description of
congenital melanocytic nevi3
CMN parameter
Terminology
Definition
CMN projected
adult size
Small
<1.5 cm
Medium
  M1
1.5–10 cm
  M2
10–20 cm
Large
  L1
>20–30 cm
  L2
>30–40 cm
Giant
  G1
>40–60 cm
  G2
>60 cm
Multiple
>3 medium CMN without
a single predominant
CMN
CMN Localization
  Head
Face, scalp
  Trunk
Neck, shoulder, upper/mid/lower back,
breast/chest, abdomen, flank, gluteal
region, genital region
  Extremities
Upper arm, forearm, hand, thigh, lower
leg, foot
Number of satellites
S0
No satellites
  (refers to the
number within the
first year of life)
S1
<20 satellites
S2
20–50 satellites
S3
>50 satellites
Additional
morphologic
features
C0, C1, C2
None, moderate, marked
color heterogeneity
R0, R1, R2
None, moderate, marked
surface rugosity
N0, N1, N2
None, scattered, extensive
nodules
H0, H1, H2
None, notable, marked
hypertrichosis
Adapted from Table III (Krengel S, Scope A, Dusza SW, et al. New
recommendations for the categorization of cutaneous features of congenital
melanocytic nevi. J Am Acad Dermatol. 2013;68:441–451.)

851
Treatment/surgical technique
superficial portion of the nevus while the cells of congenital
pigmented nevi can usually be found as deep as the subcuta-
neous fat and sometimes even in deeper structures.32 This
group of “partial-thickness” excision, while potentially reduc-
ing the overall number of nevus cells and lightening the
degree of pigmentation, is commonly associated with later
“bleed through” of the deep nevus cells, but may be manifest
as both abnormal skin coloration and hypertrichosis (Fig.
38.3). There is also difficulty following the lesions for malig-
nant transformation because of the scarring. The long-term
effects of laser treatment on the remaining nevus cells remain
to be determined.
Juvenile skin, although elastic, does not have the laxity of
an adult skin and local flaps used in adults are often difficult
in children. When direct excision and primary closure are not
a possibility, then tissue expansion is the “workhorse” treat-
ment modality for many medium to large nevi. Facial nevi
that cross multiple aesthetic units, as well as involving the
periorbital area, may require expansion in combination with
The authors advocate treatment of large and giant nevi
beginning at 6 months of age in most cases. Although many
of the tissue expansion procedures used in the treatment of
large nevi can be applied to older children and adults, the
intolerance for repeated procedures and the decreased elastic-
ity of the skin may make the excision of extensive lesions
impractical in older patients. Also, for larger nevi the greatest
risk for malignancy is in the first few years.24,39,40
Treatment/surgical technique
Many strategies have been tried for the removal and recon-
struction of large and giant nevi. Serial excision can often
debulk these massive lesions but rarely remove them com-
pletely. Excision and split-thickness skin graft have generally
poor functional and aesthetic outcomes. Dermabrasion, curet-
tage, chemical peel, and laser treatment all have problems
with recurrence, since these modalities only eliminate the
Fig. 38.2  Nevi present with widely variable appearance and size. (A,B) Small and medium nevi may be flat
with uniform color and border, or thick and verrucous. (C) They may present as large nevi with multiple
small and medium satellite nevi, or (D) on the lower extremity they may become thick, cerebriform-like, and
associated with severe pruritus and chronic breakdown.
A
B
C
D

852
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
Fig. 38.3  (A) This infant has a giant nevus and multiple satellite nevi. (B) The light area within the nevus
was dermabraded in the neonatal period. (C) At 7 years of age, despite partial-thickness excision with a
dermatome at 3 months of age, nevus cells are present throughout the back and even in the initially
dermabraded area, despite its continued lighter appearance.
A
B
C
full-thickness skin graft (expanded or non-expanded). Finally,
some unique cases may benefit from a free flap and tissue
expansion as an adjunct procedure to close the donor site.
Partial-thickness excision
Partial-thickness excision of large and giant nevi has taken the
form of early dermabrasion, curettage, laser, or more recently,
excision, leaving the underlying subcutaneous fat in place, to
minimize contour deformities and covering this with a dermal
collagen substructure and very thin split-thickness skin graft
or even culture skin. These latter approaches have been par-
ticularly applied to the extremities where techniques such as
expansion are not as readily applied. The potential downside
of each of these approaches is that, while the surface nevus
population may be reduced, the deeper nevus cells will fre-
quently “bleed through” over time, leaving an even more
significant deformity at an age when complete excision may
no longer be an option. Circumferential grafting of the
extremities with these approaches can still also result in sig-
nificant late functional disturbance.
Serial excision
Serial excision is the excision of a lesion in more than one
stage. The inherent viscoelastic properties of skin are used,
allowing the skin to stretch over time. These techniques enable
wound closure to be accomplished with a shorter scar than if
the original lesion was elliptically excised in a single stage and
to reorient the scar closer to the relaxed skin lines. This tech-
nique can be applied to small or medium nevi, depending on
the location of the nevus and the laxity of the local skin (Fig.
38.4). However, with each stage of the serial excision there is
some recoil, and serial excision alone, near sensitive areas
such as the lower eyelid and oral commissure, may create
tissue shortage and long-term distortion of structures that
would not arise if tissue expansion had been applied rather
than serial excision alone.

853
Treatment/surgical technique
to the fascial level, the contour deformity produced following
excision and skin graft to the extremities and trunk can be
significant and result in both aesthetic and functional defects
later in life.
Use of split-thickness skin grafting on the trunk, even when
done with non-meshed medium-thickness grafts, can still
result in considerable late deformity with potential associated
functional defects where the graft skin does not keep up with
surrounding growth. The one area of the trunk that can be
grafted without significant late contour deformity is the back
because of the relatively uniform flat surface. Significant
contour deformities develop later where the grafting is carried
on to the flanks and anterior trunk (particularly in heavier
individuals where the border between grafted and non-grafted
Excision with skin graft reconstruction
As noted above, the depth of the congenital nevus requires
excision to the fascial level if one is to limit the risk of leaving
nevus behind, either to “bleed through” later, or to undergo
degeneration with potentially late identification. However,
skin grafts do have some role in the treatment of congenital
nevi.
On the face (periorbital region and ear), expanded and
non-expanded full-thickness skin grafts provide good match
in both color and thickness for the recipient area. Similarly,
expanded full-thickness skin grafts are an excellent choice for
coverage on the dorsum of the hand and foot (and distal third
of the leg) (Fig. 38.5). However, if the excision is being carried
Fig. 38.5  An expanded
full-thickness skin graft provides
both good functional and
aesthetic reconstruction on the
dorsum of the foot and
lower-quarter to one-third of the
leg. (A,B) In this patient,
expansion was carried out both
regionally and at the graft donor
site in the lower abdomen and
bilateral groin. (C) At completion
of grafting with the expanded
full-thickness skin graft and
advancement of the expanded
adjacent skin flap to minimize
the step-off between flap and
graft. (D) The result at 1 year
post-grafting.
A
B
C
D
Fig. 38.4  A medium-sized nevus of the cheek is excised in three surgeries with the benefit of reducing the length of the final scar as well as avoiding potential distortion of
the surrounding facial structures. (A) Preoperatively; (B) 6 months after first-stage excision; (C) 6 months after second-stage excision; and (D) 4 months after the third and
final stage.
A
B
C
D

854
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
expander, overlying firm tissue. While integrated ports have
been used by some surgeons, the authors use remote ports in
all cases with none externalized, despite the fact that the
parents typically do the expander injections. Since the skin
overlying the port can be readily anesthetized with a topical
anesthetic, there is no benefit in externalizing the ports.
Consideration for the incisions, expander placement, and
flap movement in relation to the defect and postoperative
scars requires preoperative planning and discussion with the
patient and family. In regard to donor site, one must match
color, texture, and contour of the recipient site to maximize
the aesthetic and functional outcome. The donor site tissue
must be free of infection, or have stable scars, to minimize the
risk of expander failure or extrusion. Careful selection of
skin can create quite dramatic deformities) (Fig. 38.6). Skin
grafting of the back can, however, provide a means of excising
a large segment of the nevus, in an area of potentially greater
risk of degeneration, and enhance the dermatologist’s ability
to map and follow the remaining lesion.
Tissue expansion
Several types of tissue expanders exist based on shape, size,
and type of filling valve. The shape that the authors most
commonly use in treatment of congenital nevi is rectangular.
Expander volumes have a wide range and vary according to
the anatomic site. Saline is delivered in a controlled fashion
via the valve port, which is located at some distance from the
Fig. 38.6  (A) This case, treated early in our giant nevus experience, had the unusual feature of fixation of
the nevus to the deep tissues of the back and invasion of the underlying latissimus muscle, requiring a
deeper-plane excision. (B) At 1 week post-excision, the non-meshed split-thickness skin graft was healing
well. (C,D) A significant contour deformity is seen 22 years later, after excision of the remaining nevus only
to fascial level.
A
B
C
D

855
Treatment/surgical technique
(superficial temporal, postauricular, occipital vessels, and
contribution from supraorbital vessels). Port placement in
the preauricular area is favored when an expander does not
encroach on the area because of the ease of palpation, limited
risk to the overlying skin, and low risk of migration. The
expanders used in scalp reconstruction are usually of 250, 350,
or 500 cc volume (although 70 cc expanders may be used for
medium-sized nevi). Large and giant nevi might require serial
expansion with a larger expander placed after each stage to
distribute expansile forces evenly over the hair follicles. As
previous studies have shown, tissue expansion itself does
not induce proliferation of hair follicles but can more than
double the size of the scalp without visible decrease in hair
density.43 Despite former thoughts that expansion may affect
cranial vault morphology, it usually self-corrects within 3–4
months.44,45
The use of expanded transposition flaps versus simple
advancement flap design has greatly reduced the number of
serial expansion required and has resulted in improved recon-
struction of hair direction and hairline (Fig. 38.7).
Face and neck
Large and giant nevi of the face are the most visible of these
lesions and also represent the area where unsightly scarring
is most readily visible; consequently, the planning and execu-
tion of the reconstructive plan must be very detailed.
To achieve an optimal aesthetic and functional result in the
facial and cervical regions, one must adhere to the subunit
principle. This dictates incision placement so the final result
has the scar hidden in a natural crease (e.g., nasolabial fold).
Undue tension on facial structures (brow, eyelid, mouth) can
cause disfigurement such as brow asymmetry or ptosis,
anterior hairline asymmetry, lower lid and oral drooping,
especially when using cervical skin flaps cephalad to the
cervicomandibular angle.
Neale and associates report 10% lower eyelid ectropion rate
and >10% lower lip deformity in this context.46 Judicious flap
design and the use of expanded transposition and rotation
flaps, as well as the use of multiple expanders and overexpan-
sion, are recommended to minimize these complications.
For forehead lesions, in general one should always use the
largest expander possible under the uninvolved forehead
skin, occasionally even carrying the expander under the
lesion. As an initial step to the reconstruction of the forehead,
the brow should be set in place using permanent sutures
along the supraorbital rim. Thereby the transposition of the
forehead does not disrupt the position of the brow as the flap
is moved. It is important to avoid elevation of either the
ipsilateral or contralateral brow, since it can only be returned
to the preoperative position with the interposition of addi-
tional non-hair-bearing forehead skin. Expansion of the defi-
cient area alone will not reliably lower the brow once a skin
deficiency exists.47 Over-reaching with the expanded flap both
risks flap compromise and increases the risk of brow and
hairline distortion. Accepting the need for repeat forehead
expansion to complete the forehead reconstruction may also
limit the length of the scar above the brow on the uninvolved
side.
For eyelid reconstruction, full-thickness skin grafts can
also achieve better functional and aesthetic results than
split-thickness skin grafts. In the past, the authors used
expander size is also imperative in areas with thin donor skin,
in order to avoid expander folds or prominence which can
create areas of excessive pressure and skin compromise. In the
majority of the cases, the expanders are placed through an
incision within the border of the lesion. In cases where the
expansion has been used repeatedly and scars are present
both at the border of the remaining nevus and at junctions of
prior flaps, the new expanders should be placed through
those scars that are least likely to be stressed by the weight or
pull of the new expander (i.e., away from the most dependent
points). In other cases, like unstable scar, vascular tumor, and
craniofacial deformities, the incisions are planned outside the
border of defect or on occasion at a distant site. A pocket is
dissected to allow placement of the expander with placement
of the port in a separate pocket over a region with firm skeletal
support for ease of outpatient filling. Partial fill of the expander
(10–20% of the listed volume) ensures the expander is prop-
erly positioned without surface folds that can cause pressure
against the skin flap to be expanded. Closed suction drains
are placed for a few days (3–10 days) to control the potential
dead space from wide undermining.
Serial injections are started 7–10 days post-insertion pro-
vided the skin flaps are in excellent condition and continue
on a weekly basis for about 10–12 weeks. Most pediatric
patients go on a home expansion protocol with injections
performed by the parents under the direction of our nursing
staff and surgeons.
If another set of expanders is needed to excise the lesion
fully (serial expansion), the authors usually wait 4–6 months
between them.
A broad-spectrum antibiotic is started upon surgery and
is continued until the drains are removed. By maintaining
a low threshold for placing the expander patient back on
antibiotic in the presence of suspected beginning of infection,
most infections can be controlled before potential loss of the
expander.
The design of an expanded flap is of major importance.
While the early dogma of tissue expansion emphasized
designing advancement flaps only, experience over more than
two decades has demonstrated that expanded transposition
and rotation flaps may frequently be preferable. It provides
greater versatility in flap design and range.41,42 The high vas-
cularity of expanded flaps, gained by the process of expansion,
makes this design safe. In the expanded transposition flap, the
base of the flap is also expanded, which allows advancement
of the base of the flap in addition to the transposition of the
tissues and thus provides greater coverage than advancement
only.
Regional consideration in pediatric
tissue expansion
The optimal choice of treatment still varies by body region,
and the most pertinent issues and considerations necessary
for successful tissue expansion in each body region is now
discussed.
Scalp
The expander is placed in a pocket dissected subgaleal but
staying above the periosteum. Flaps are designed taking
into consideration the orientation of the major scalp vessels

856
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
Fig. 38.7  (A,B) This infant was born with a large nevus of nearly half the scalp and left lateral forehead. (C,D) Expanders were placed posterior to the nevus and beneath
the normal forehead and adjacent scalp at 6 months of age. (E) The appearance of the reconstructed scalp and forehead at 2 years of age and 1 year post-excision of the
remaining scalp nevus requiring a second expansion. Forehead width, hairline, and hair direction are well-oriented. Some residual excess skin is present in the glabellar
area. (F,G) At 6 years following completion of the expansion and minor revision of the scars along the brow, the patient has excellent symmetry and a natural hairline and
direction of hair growth.
A
B
C
D
E
F
G

857
Treatment/surgical technique
Fig. 38.8  (A) This infant was born with a thick mamillated hairy nevus with deeply pigmented areas centrally and light pigmentation along the borders, which gradually
darkened. (B) Three expanders are shown in place and, with hair trimmed, the full extent of the nevus is visible. (C) Nevus of the forehead, cheek, nose, and scalp is
excised following well-planned expander placement. The eyelid and brow were not addressed at this point. (D) At 3 years post-expansion, prior to further excision of the
nevus of the eyelid, revision of graft, and scar of brow and canthal region. The upper and lower eyelids were grafted with a single-piece expanded full-thickness skin graft
from the supraclavicular area. (E) At 7 years of age, the eye and brow symmetry are good and the patient is ready for minor revision with both surgery and laser.
A
B
C
D
E
pre-expansion of a donor site allowing a single, large full-
thickness skin graft to be harvested for reconstruction of the
eyelids, canthus, and lid between the eyelid fold and brow of
the upper lid.48 In recent years, surgeons have aimed to recon-
struct the region between upper eyelid crease and eyebrow
with a pedicle flap from the forehead. The tissue likeness is
more consistent in young children, whereas a graft in this area
can appear too thin and can be aesthetically unpredictable.
The supraclavicular and post-auricular areas are the ideal
donor sites for grafts to be placed on the face because of
excellent color and texture match. For larger grafts requiring
expansion, part of the expansion provides for the graft tissue,
with the remainder used for primary closure of the donor site.
Donor site expansion also allows harvest of free flaps from
distant sites to cover complete cheek or forehead aesthetic
units when regional tissue is not available. Where previously
the surgeons carried the single graft on to the nasal dorsum
when the nevus involved the periorbital area and nose, they
now use flaps from the expanded forehead for that cover-
age (often combined with excision of nevus of the forehead)
(Fig. 38.8).
The eyebrow may be reconstructed at the same time as the
eyelid, treated after the adjacent forehead or eyelid nevus is
excised, or left unresected as an important aesthetic landmark
(Fig. 38.8C). When the eyebrow is heavily involved with the
nevus, it is the authors’ current practice to leave a small
portion of the nevus unexcised, to mimic the normal eyebrow.
If the nevus is darkly pigmented in a fair-skinned child, the
residual lesion may be lightened through laser treatment at a
later time. However, the long-term effectiveness of this
approach has not yet been established. The residual brow
nevus is closely followed, and if changes occur either in
surface character or color, leading to concerns about potential
degeneration, the involved brow is excised and reconstructed.

858
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
Tissue expansion can be very effective on the anterior
trunk, provided that the lesion is confined to either the lower
abdomen or central abdomen and that there is sufficient
uninvolved skin above, or above and below the nevus to
expand. Expansion must be avoided in or around the area of
the breast bud in females and lesions of the breast should be
left until after breast development. Flaps below the chest can
be designed as transposition or rotation flaps rather than
direct downward advancement to avoid pulling on the nipple
areolar complex.
Alternatively, expanded flaps can be advanced transversely
across the abdomen, re-insetting the umbilicus in the same
manner as in a standard abdominoplasty (Fig. 38.9).
The use of expanded transposition flaps has enabled exci-
sion of nevi of the upper back/neck and back/buttock/peri-
neal region, where previously it was thought that only skin
grafting was possible. Tissue expanders in the 500–750 cc
A reconstructive option includes an island flap of temporal
scalp based on a branch of superficial temporal artery. If the
temporal scalp is minimally involved with nevus and there is
a plan for simultaneous expansion of the temporal scalp, the
island flap can be planned from the area of maximally
expanded flap, with the effect that the hair density is lessened
in expansion, and the resultant reconstructed brow will not
be too dense. However, for patients where the temporal scalp
is involved with nevus, reconstruction with micrografts or
strip grafts may become necessary. These are decisions that
may not be possible to make until the late teens or adult years.
Trunk
The most common location of giant nevi was found to be over
the posterior trunk, often extending anteriorly in a dermatome
distribution.
A
B
C
a’
a
b
b’
c’
d’
d
c
D
Fig. 38.9  (A,B) This large nevus covers the greater part of the back and wraps around to the right half of the lower chest and abdomen. (C,D) At completion of the first
expansion of the back, the flaps are transposed to cover most of the back. The flaps are designed with a superomedial base and a back cut across the lateral part of the flap
(points c–d). This design allows greater coverage of normal tissue due to the advancement of the base of the flap (points d–d’).

859
Treatment/surgical technique
E
F
G
H
(E) The second set of
expanders is placed beneath one of the
previously expanded back flaps and beneath
the uninvolved left abdominal skin. (F) The
expanded flaps, anterior and posterior, join
on the right flank as the abdominal flap is
advanced transversely across the abdomen
and the umbilicus is delivered through the
flap. (G,H) Anterior and lateral views 2
months postoperatively show only small
areas of remaining nevus that can be
excised from the upper abdomen without
further expansion and without risk of
downward pull on the right breast.
Fig. 38.9, cont’d
range are used most commonly in infants and young children.
Serial expansion with careful planning has made possible the
excision of progressively larger nevi of the back and buttocks,
with excellent outcomes. Subsequent expansions, as a child
gets older, are carried out using expanders in the 250–500 cc
size for shoulders and upper back and 1000–1200 cc size for
the lower back/buttocks (Figs. 38.10 & 38.11).
In patients with giant nevi involving the entire or near-
entire back, flanks, and abdomen, and with markedly varie-
gated nevus architecture or color, one may decide to excise
the greater part of the nevus of the back alone, and cover this
with split-thickness (non-meshed) skin grafts (see Fig. 38.6).
Some literature suggests that this is the area at greatest risk
of degeneration, and when color, texture, or character of the
nevus makes follow-up difficult, excision may be warranted
to “simplify” follow-up. It is recognized that split-thickness
skin grafts elsewhere on the trunk and extremities may be
associated with significant deformity and potential functional
disturbance during growth, so the authors recommend against
grafting elsewhere. The back is the only area where split-
thickness skin grafting may provide a reasonable aesthetic
result as long as the graft is not meshed.
Extremities
Tissue expansion of the extremities has been viewed classi-
cally as of limited value and is associated with a higher risk
of complications.49,50

860
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
A
B
C
D
E
F
Fig. 38.10  (A,B) This patient, shown fully in Fig.
38.2C, showed thick, deeply pigmented nevus over the
occiput, neck, and upper back with multiple satellite nevi
on the remaining trunk, extremities, and face. (C,D) The
first expanders were placed in the occiput above the
nevus and bilateral back/flanks below the nevus. This
allowed excision of scalp nevus and the lower portion of
the back nevus and brought normal back skin to join
normal shoulder skin lateral to the remaining neck/
shoulder nevus. (E) At 3 years of age, the expanded
flaps have been advanced further towards the midline of
the posterior neck prior to final excision. (F–H) As in
other patients with some uninvolved skin in the anterior
shoulders, he was able to undergo serial expansion of
the shoulder flaps to complete the shoulder, neck, and
upper back nevus excision. Although some of the
satellites remain and scars have widened in the upper
back, the shoulder, neck, and upper arm contour are
normal and the scars are positioned so as to avoid any
inhibition of growth or function.
G
H

861
Treatment/surgical technique
A
B
C
Fig. 38.11  (A,B) This infant was born with a large nevus of the lower half of the back, buttocks, perineum, and upper thigh. (C,D) Expanded transposition flaps create the
length and flap orientation to allow (E,F) repeat expansion and coverage of the remaining buttocks, perineum, and perianal areas. (G,H) The patient is seen 13 years later
with no additional scar revisions. While she has extensive involvement with small satellite nevi, the scars from the excision and reconstruction were clearly positioned to
avoid significant contour deformities and growth disturbance.
D
E
F
G
H

862
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
cases, and the optimum timing of these complex reconstruc-
tive procedures is still under consideration.
Satellite nevi
Satellite nevi may appear anywhere over the course of the
first few years of life, and their number seems to correlate
directly with the likelihood of NCM.26 They may vary in size
from small to medium lesions (see Figs. 38.2, 38.3, & 38.11).
To date, only one case of melanoma has been reported arising
in a satellite nevus.51 With this in mind, it is generally agreed
that the primary reason for excision of satellite nevi is an aes-
thetic one. A significant benefit may also result from excising
multiple satellite nevi on the face before the child enters his or
her school years. In addition, some of the larger satellites on
the extremities may be excised in infancy and early childhood
(simultaneously with other procedures on the major lesion)
by relatively simple serial excision techniques; if left to later
childhood and adolescence, the reduced subcutaneous fat and
added flexibility of the surrounding tissues may no longer
allow excision without expansion or grafting.
Postoperative care
Parents are often more comfortable having their child observed
for the first night postoperatively. The patients may be moni-
tored for pain or hematoma formation. The dressing is
The geometry of the extremity, as well as the limited flexibil-
ity of the skin (particularly in the lower extremity), makes
regional expansion of limited use. Expanded flaps can be
moved effectively in a circumferential direction, but move
poorly in an axial direction. However, attempts to move a
limited amount of skin to reconstruct the defect when the
nevus is more than a third of the circumference of the extrem-
ity can result in significant constriction of the extremity, par-
ticularly in the upper arm (Figs. 38.12–38.14).
In the past decade, the authors have begun to find a way
around these limitations.49 Large expanded transposition
flaps from the scapular region are used to cover the upper arm
and shoulder. For circumferential nevi from the mid humeral
level to the wrist, expansion of the flank creates a large pedicled
flap through which the forearm can be placed during vascu-
larization of the flap from the recipient bed. After 3 weeks, the
pedicle is divided. Expanded full-thickness skin grafts have
been used effectively for the dorsum of the hand, with excel-
lent aesthetic outcome (see Fig. 38.12).
Although pedicled flaps are not readily available for cover-
age of more extensive lesions of the arm, thigh, or leg, the
authors have had success with expanded free flaps from the
abdomen and scapular region. Alternatively, when the patient
is seen in early infancy, an expanded pedicle flap from the
posterior thigh/buttock to the leg from knee to ankle affords
the same benefits as an expanded pedicle flap from the
abdomen/flank to the upper extremity (see Fig. 38.14). These
procedures have been used only in very carefully selected
Fig. 38.12  (A,B) This child, with
circumferential nevus of the arm, was
treated with an expanded pedicle flap from
the abdomen and flank. Following 3
months’ expansion, the expander is
removed, the nevus excised, and the arm
passed into a tunnel of expanded skin
which is secured around the arm with large
bolster sutures. The pedicle is divided at 3
weeks, then additional excision of a narrow
strip of remaining nevus both proximal and
distal to the flap allows fine-tuning of the
scars. (C,D) The patient is shown 3 years
after division of the flap with excellent
contour of the arm, and an aesthetically
acceptable donor site.
A
B
C
D

863
Outcomes, prognosis, and complications
Fig. 38.13  (A,B) This young teen
presented with a large nevus of the
anterolateral thigh. (C) The appearance after
13 weeks of expansion. (D,E) The greater
part of the nevus is excised (leaving only a
small strip of nevus at its posterior border)
and the flap transposed, releasing the flap
just above the knee, so as to place the scar
in the least visible position and minimize
risk of a significant contour deformity that
would arise with direct advancement of the
flap. (F,G) The final result is shown at 3
years following excision of the final
segment of the nevus, with excellent
contour and the scar positioned to avoid
later functional disturbance.
A
B
C
D
E
F
G
changed daily for several days (antibiotic ointment on suture
line with Xeroform gauze above and soft padding). The drains
are usually removed 3–10 days postoperatively, depending on
the amount of discharge. Serial injections are started 7–10
days after insertion, provided the skin flaps are in excellent
condition. After one or two postoperative visits and a teach-
ing session, most patients start home expansion directed by
the parents or guardians. Parents are provided with a printed
card to record the schedule and amount of saline injected
throughout the expansion process. They are encouraged to
take digital photos and record the process and keep the surgi-
cal team well informed.52 A local anesthetic cream can be put
on the skin above the port prior to the injection to minimize
pain. The expansion should be performed until the skin is
tense but not extremely painful to the patient or of any com-
promise to the skin.
Outcomes, prognosis,
and complications
Beyond site-specific complications of tissue expansion men-
tioned earlier, major complications may involve infection,
expander exposure, and flap ischemia. Traditionally, it has
been taught that early postoperative infection should be
managed with expander removal and antibiotics; however,
early detection of infection and maintaining a low threshold
for antibiotic use may avoid expander loss. Small extrusions
of the expander when the surrounding wound is stable may
allow for some additional expansion and expander salvage.
Minor complications include pain during expansion (which is
transient), seroma, “dog ears” at donor site, and widening
of scars.53,54

864
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
A
B
C
D
E
Fig. 38.14  (A) The flexibility of the infant’s leg is used to advantage for the excision of this circumferential
nevus extending from the knee to just above the ankle. (B) The posterior thigh was expanded starting at 4
months of age. (C) At 7 months of age, the greater part of the nevus was excised and the defect
reconstructed with an expanded pedicled flap from the posterior thigh, held in place by slipping the foot
beneath a “bucket handle” of skin, which lay between the initial incision used to place the expander, and the
proximal border of the flap. (D) The pedicle was divided after 3 weeks and the “bucket handle” bipedicle
flap converted to a unipedicle flap and used for partial coverage of the donor defect on the posterior thigh.
(E,F) The excellent contour of both the leg and proximal thigh is evident on the two views of the patient 6.5
years following the excision and flap reconstruction.
F

865
Outcomes, prognosis, and complications
reconstructions having a greater chance of keeping up with
growth, large full-thickness grafts were harvested from
expanded donor sites. The relative size constraints of full-
thickness grafts were virtually eliminated. However, when
following these patients into the teen years, despite relatively
normal skin surface appearance and growth, contour defor-
mities were great enough to suggest limiting even full-
thickness skin grafting to the dorsum of hand or foot and the
periorbital area. In the extremities these late deformities were
avoided with the selective use of expanded pedicle flaps, as
well as the use of free tissue transfer with subsequent expan-
sion of the transferred tissue to increase its coverage.
Recognizing the increasing difficulty of tissue expansion
with age, some of these procedures are only effective if done
when the patient is young. While not totally ruling out any
procedures (other than the expanded pedicle flap from poste-
rior thigh to lower leg) for reconstruction in older children/
adults, one must accept that, at present, many patients with
giant nevi extending from waist to knee are best monitored,
rather than subjected to unsightly scars and possible func-
tional disturbance. Free tissue transfer, either with or without
prior expansion, allows for the harvest of larger flaps with
improved ease of donor site closure, and may provide a means
of correcting some late deformities secondary to either com-
plications of earlier treatment, or poor choice of the initial
treatment option.
Given the relative scarcity of large and giant nevi, it
has been difficult for many surgeons to accumulate large
enough numbers of cases to draw conclusions regarding the
effectiveness of varied surgical options with respect to risk
reduction of degeneration and/or functional and aesthetic
outcomes. Since 1988, the authors have closely followed the
efficacy of early treatment of large and giant nevi in dif-
ferent body regions with a series of now over 300 patients.
Long-term follow-up, and the repetition of patterns of
involvement in each affected area, has given us a unique
opportunity to compare varied approaches of excision as
well as the need for secondary surgical procedures, either to
improve the aesthetic outcome or to deal with late functional
problems. Modifications are continuing in the treatment
protocol to improve outcomes and to minimize the need for
secondary surgery.
In regions that do not lend themselves readily to tissue
expansion, early in our experience, efforts were directed at
excising the nevus and skin-grafting the defect. It became
clear after relatively short follow-up that when lesions were
excised to a depth assuring complete or near-total removal,
split-thickness skin graft reconstruction resulted in poor aes-
thetic outcomes, and, when carried circumferentially around
the trunk or extremities, later growth of the child resulted in
a worsening contour defect with potential growth disturbance.
In an effort to improve aesthetic outcomes, and provide
3. Krengel S, Scope A, Dusza S, et al. New recommendations for the
categorization of cutaneous features of congenital melanocytic nevi.
J Am Acad Dermatol. 2013;68:441–451. An expert consensus-based
schema to standardize the description of congenital melanocytic nevi that
includes several morphologic features as well as size criterion, the goal of
which is to improve intraobserver agreement and aid the development of
an international database to collate phenotypic and genetic morphology of
CMN.
9. Kovalyshyn I, Braun R, Marghoob A. Congenital melanocytic naevi.
Australas J Dermatol. 2009;50:231–240. A comprehensive review about
congenital melanocytic nevi, including pathogenesis, natural history, and
complications.
20. Zaal LH, Mooi WJ, Klip H, et al. Risk of malignant transformation
of congenital melanocytic nevi: a retrospective nationwide study
from The Netherlands. Plast Reconstr Surg. 2005;116:1902–1909.
Retrospective study of a national database of patients with large and giant
congenital nevi from the Netherlands. The authors compared melanoma
rates between patients with giant nevi and the general population over a
10-year period and revealed an increased rate of melanoma in patients
with giant congenital melanocytic nevi when compared with the general
population.
35. Bittencourt FV, Marghoob AA, Kopf AW, et al. Large congenital
melanocytic nevi and the risk for development of malignant
melanoma and neurocutaneous melanocytosis. Pediatrics.
2000;106:736–741.
38. Rhodes AR, Melski JW. Small congenital nevocellular nevi and the
risk of cutaneous melanoma. J Pediatr. 1982;100:219–224.
41. Bauer BS, Margulis A. The expanded transposition flap: shifting
paradigms based on experience gained from two decades of
pediatric tissue expansion. Plast Reconstr Surg. 2004;114:98–106. This
paper demonstrates the advantages of transposition flaps used in tissue
expansion when compared with advancement flaps.
47. Bauer BS, Few JW, Chavez CD, et al. The role of tissue expansion in
the management of large congenital pigmented nevi of the forehead
in the pediatric patient. Plast Reconstr Surg. 2001;107:668–675. This
paper suggests guidelines for treatment of forehead and scalp congenital
nevi with an emphasis on preserving or reconstructing the landmarks of
hairline, hair direction, and brow position.
48. Bauer BS, Vicari FA, Richard ME, et al. Expanded full-thickness
skin grafts in children: case selection, planning, and management.
Plast Reconstr Surg. 1993;92:59–69.
49. Pandya AN, Vadodaria S, Coleman DJ. Tissue expansion in the
limbs: a comparative analysis of limb and non-limb sites. Br J Plast
Surg. 2002;55:302–306.
52. Margulis A, Bauer BS, Fine NA. Large and giant congenital
pigmented nevi of the upper extremity: an algorithm to surgical
management. Ann Plast Surg. 2004;521:158–167.
54. Manders EK, Schenden MJ, Furrey JA, et al. Soft-tissue expansion:
concepts and complications. Plast Reconstr Surg. 1984;74:493–507.
This paper reviews the early concepts of how and why expansion works
and discusses potential complications with avoidance techniques.
Access the complete reference list online at

865.e1
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26. Marghoob AA, Dusza S, Oliveria S, et al. Number of satellite nevi
as a correlate for neurocutaneous melanocytosis in patients with
large congenital melanocytic nevi. Arch Dermatol. 2004;140:171–175.
27. Changchien L, Dusza SW, Agero AL, et al. Age- and site-specific
variation in the dermoscopic patterns of congenital melanocytic
nevi: an aid to accurate classification and assessment of melanocytic
nevi. Arch Dermatol. 2007;143:1007–1014.
28. Mark GJ, Mihm MC, Liteplo MG, et al. Congenital melanocytic nevi
of the small and garment type. Clinical, histologic, and
ultrastructural studies. Hum Pathol. 1973;4:395–418.
29. Rhodes AR, Silverman RA, Harrist TJ, et al. A histologic
comparison of congenital and acquired nevomelanocytic nevi. Arch
Dermatol. 1985;121:1266–1273.
30. Everett MA. Histopathology of congenital pigmented nevi. Am J
Dermatopathol. 1989;11:11–12.
31. Marghoob AA, Kopf AW, Bittencourt FV. Moles present at birth:
their medical significance. Skin Cancer Foundation J. 1999;36:
95–98.
32. Arneja JS, Gosain AK. Giant congenital melanocytic nevi. Plast
Reconstr Surg. 2007;120:26e–40e.
33. Kopf AW, Bart RS, Hennessey P. Congenital nevocytic nevi and
malignant melanomas. J Am Acad Dermatol. 1979;1:123–130.
34. Marghoob AA, Schoenbach SP, Kopf AW, et al. Large congenital
melanocytic nevi and the risk for the development of malignant
melanoma: a prospective study. Arch Dermatol. 1996;132:170–175.
35. Bittencourt FV, Marghoob AA, Kopf AW, et al. Large congenital
melanocytic nevi and the risk for development of malignant
melanoma and neurocutaneous melanocytosis. Pediatrics.
2000;106:736–741.
36. Tromberg J, Bauer B, Benvenuto-Andrade C, et al. Congenital
melanocytic nevi needing treatment. Dermatol Ther. 2005;18:136–150.
37. Chun K, Vázquez M, Sánchez JL. Malignant melanoma in children.
Int J Dermatol. 1993;32:41–43.
38. Rhodes AR, Melski JW. Small congenital nevocellular nevi and the
risk of cutaneous melanoma. J Pediatr. 1982;100:219–224.
39. Kaplan EN. The risk of malignancy in large congenital nevi. Plast
Reconstr Surg. 1974;53:421–428.
40. Trozak DJ, Rowland WD, Hu F. Metastatic malignant melanoma in
prepubertal children. Pediatrics. 1975;55:191–204.
41. Bauer BS, Margulis A. The expanded transposition flap: shifting
paradigms based on experience gained from two decades of
pediatric tissue expansion. Plast Reconstr Surg. 2004;114:98–106. This
paper demonstrates the advantages of transposition flaps used in tissue
expansion when compared with advancement flaps.
42. Joss GS, Zoltie N, Chapman P. Tissue expansion technique and the
transposition flap. Br J Plast Surg. 1990;43:328–333.
43. MacLennan SE, Corcoran JF, Neale HW. Tissue expansion in head
and neck burn reconstruction. Clin Plast Surg. 2000;27:121–132.

865.e2
SECTION III
CHAPTER 38 • Congenital melanocytic nevi
44. Colonna M, Cavallini M, De Angelis A, et al. The effects of scalp
expansion on the cranial bone: a clinical, histological, and
instrumental study. Ann Plast Surg. 1996;36:255–260.
45. Moelleken BR, Mathes SJ, Cann CE, et al. Long-term effects of
tissue expansion on cranial and skeletal bone development in
neonatal miniature swine: clinical findings and histomorphometric
correlates. Plast Reconstr Surg. 1990;86:825–834.
46. Neale HW, Kurtzman LC, Goh KB, et al. Tissue expanders in the
lower face and anterior neck in pediatric burn patients: limitations
and pitfalls. Plast Reconstr Surg. 1993;91:624–631.
47. Bauer BS, Few JW, Chavez CD, et al. The role of tissue expansion in
the management of large congenital pigmented nevi of the forehead
in the pediatric patient. Plast Reconstr Surg. 2001;107:668–675. This
paper suggests guidelines for treatment of forehead and scalp congenital
nevi with an emphasis on preserving or reconstructing the landmarks of
hairline, hair direction, and brow position.
48. Bauer BS, Vicari FA, Richard ME, et al. Expanded full-thickness
skin grafts in children: case selection, planning, and management.
Plast Reconstr Surg. 1993;92:59–69.
49. Pandya AN, Vadodaria S, Coleman DJ. Tissue expansion in the
limbs: a comparative analysis of limb and non-limb sites. Br J Plast
Surg. 2002;55:302–306.
50. Casanova D, Bali D, Bardot J, et al. Tissue expansion of the lower
limb: complications in a cohort of 103 cases. Br J Plast Surg.
2001;54:310–316.
51. Bett BJ. Large or multiple congenital melanocytic nevi: occurrence
of cutaneous melanoma in 1008 persons. J Am Acad Dermatol.
2005;52:793–797.
52. Margulis A, Bauer BS, Fine NA. Large and giant congenital
pigmented nevi of the upper extremity: an algorithm to surgical
management. Ann Plast Surg. 2004;521:158–167.
53. Bauer BS, Corcoran J. Pediatric tissue expansion. In: Bentz ML,
Bauer BS, Zuker RM, eds. Principles and Practice of Pediatric Plastic
Surgery. St. Louis: Quality Medical Publishing; 2008:309–337.
54. Manders EK, Schenden MJ, Furrey JA, et al. Soft-tissue expansion:
concepts and complications. Plast Reconstr Surg. 1984;74:493–507.
This paper reviews the early concepts of how and why expansion works
and discusses potential complications with avoidance techniques.

SECTION III • Pediatrics
39 
Vascular anomalies
Arin K. Greene and John B. Mulliken
SYNOPSIS
■ Vascular anomalies are divided into tumors or malformations.
■ Vascular tumors are comprised of proliferating endothelium; the
endothelial lining of malformations is more quiescent.
■ Infantile hemangioma is the most common tumor of infancy; it grows
rapidly after birth and involutes during childhood.
■ Most infantile hemangiomas are observed; problematic lesions are
treated pharmacologically or by resection.
■ Vascular malformations are present at birth, although not always
obvious; they may slowly enlarge during childhood and adolescence.
■ Vascular malformations are managed by observation, laser,
sclerotherapy, embolization, or resection; pharmacotherapy is not
available.
Introduction
Vascular anomalies is a field that incorporates several surgical
and medical specialties. Because these disorders usually
involve the skin, the initial consultation is often with a plastic
surgeon (or a pediatric dermatologist). Development of this
field has been impeded by a lack of standardized terminology.
For centuries, it was believed that vascular birthmarks were
imprinted on the unborn child by a mother’s emotions or diet.
This was reflected in words for brightly colored foods to
describe vascular anomalies. Adjectives such as “cherry”,
“strawberry”, and “portwine” have their roots in these tradi-
tional beliefs. Physicians usually preferred the Latin term
naevus maternus for vascular birthmarks.
In the 19th century, the first attempt was made by Virchow
to categorize vascular anomalies histologically. Virchow’s
angioma simplex became synonymous with “capillary” or
“strawberry” hemangioma. His term angioma cavernosum was
used indiscriminately for subcutaneous hemangiomas (that
regress) and venous malformations (that never regress).
Angioma racemosum was modified to racemose (cirsoid)
aneurysm or “arteriovenous hemangioma”, referring to an
arteriovenous malformation. His student, Wegener, developed
a comparable histomorphic subcategorization for “lymphan-
gioma”. This nomenclature persisted well into the 20th
century. Often the same word was applied to entirely different
vascular anomalies. This confusing nosology has been respon-
sible for improper diagnosis, illogical treatment, and misdi-
rected research.
A biologic classification system, introduced in 1982,1 cleared
the terminologic confusion that had long obscured the field.
This scheme evolved from studies that correlated physical
findings, natural history, and cellular features.1 The key to this
biologic classification is proper use of the Greek nominative
suffix -oma, which once meant “swelling” or “tumor”. In
modern times, -oma denotes a lesion that arises by upregulated
cellular growth. There are two major categories of vascular
anomalies, tumors, and malformations (Table 39.1). Vascular
tumors are endothelial neoplasms characterized by increased
endothelial turnover (Fig. 39.1). Infantile hemangioma, a
tumor that arises in infants, is the most common. Other vas-
cular tumors are congenital hemangioma, hemangioendothe-
liomas, tufted angioma, hemangiopericytomas, angiosarcoma,
and pyogenic granuloma. Vascular malformations are the result
of abnormal development of vascular elements during
embryogenesis (Fig. 39.2). They are designated according to
the predominant channel type as capillary malformation, lym-
phatic malformation, venous malformation, arteriovenous malfor-
mation, and complex forms such as capillary-lymphatic-venous
malformation. Malformations with an arterial component are
rheologically fast-flow; the remainder are slow-flow. This
biologic classification was accepted by the International
Society for Vascular Anomalies in 1996.2 It is critical to under-
score that vascular malformations, although fundamentally
structural disorders, can exhibit endothelial hyperplasia, pos-
sibly triggered by clotting, ischemia, embolization, partial
resection, or hormonal influences.
History and physical examination should give diagnostic
accuracy of more than 90% in distinguishing between vascular
tumors and vascular malformations (Fig. 39.3).3 The most
likely error in assigning a clinical diagnosis continues to be
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867
Vascular tumors
cutaneous lesions that appear after 1 year of life, is inappro-
priate for a vascular anomaly that is present, but not clinically
apparent, at birth.
Vascular tumors
Infantile hemangioma
Pathogenesis
Infantile hemangioma (IH) is a benign endothelial tumor with
a biologic behavior that is unique because it grows rapidly,
slowly regresses, and never recurs. There are three stages
an inaccurate, imprecise use of terminology (Table 39.2).4,5
Perhaps the most egregious example is “hemangioma”, so
often applied generically and indiscriminately to vascular
lesions that are entirely different in histology and behavior.
There is no such entity as “cavernous hemangioma”. The
lesion is either a deep infantile hemangioma or a venous
malformation.
The terms “congenital” and “acquired” should be used
with caution in describing vascular anomalies. The word
“congenital” should be restricted to a vascular lesion that is
completely expressed at birth. Hemangioma can be nascent
or fully-grown in a neonate. Vascular malformations, although
present at birth at a cellular level, may not manifest until
childhood or in adult life. “Acquired”, a term often used for
Table 39.1  Classification of vascular anomalies
Tumors
Malformations
Slow-flow
Fast-flow
Infantile hemangioma (IH)
Capillary malformation (CM)
Arterial malformation (AM)
Cutis marmorata telangiectatica
congenita (CMTC)
Telangiectasias
Aneurysm
Atresia
Ectasia
Stenosis
Congenital hemangioma (CH)
Lymphatic malformation (LM)
Arteriovenous malformation (AVM)
Rapidly involuting congenital
hemangioma (RICH)
Non-involuting congenital hemangioma
(NICH)
Microcystic
Macrocystic
Primary lymphedema
Capillary malformation-arteriovenous
malformation (CM-AVM)
Hereditary hemorrhagic telangiectasia (HHT)
PTEN-associated vascular anomaly
Hemangioendotheliomas
Venous malformation (VM)
Combined malformations
Kaposiform hemangio-endothelioma
(KHE)
Other
Cerebral cavernous malformation (CCM)
Cutaneomucosal venous malformation
(CMVM)
Glomuvenous malformation (GVM)
Verrucous venous malformation (VVM)
Capillary-arteriovenous malformation (CAVM)
Capillary-lymphatic arteriovenous
malformation (CLAVM)
Pyogenic granuloma (PG)
Combined malformations
Capillary-venous malformation (CVM)
Capillary-lymphatic malformation (CLM)
Capillary-lymphatic-venous malformation
(CLVM)
Lymphatic-venous malformation (LVM)
Fig. 39.1  Vascular tumors of infancy and childhood. (A) A 3-month-old female with enlarging infantile hemangioma of the cheek first noted at 1 week of age. (B) A
6-week-old male with a rapidly involuting congenital hemangioma (RICH). Note purple color and peripheral halo. (C) A 1-year-old male with a kaposiform
hemangioendothelioma complicated by Kassabach–Merritt phenomenon. (D) A 5-year-old with a 2-month history of bleeding pyogenic granuloma of left lower eyelid.
B
A
C
D

868
SECTION III
CHAPTER 39 • Vascular anomalies
Fig. 39.2  Vascular malformations. (A) A 4-month-old male with capillary malformation of the scalp. (B) A 3-year-old female with an expanding venous malformation of the
lip first noted at birth. (C) Infant male with macrocystic lymphatic malformation. (D) A 39-year-old female with a bleeding, ulcerated arteriovenous malformation of the
forehead.
A
B
C
D
Fig. 39.3  Natural history of infantile hemangioma compared to a vascular malformation. (A) Infantile hemangioma grows rapidly during infancy, then involutes during early
childhood. (B) Venous malformation slowly enlarges over time and does not involute.
2 Months
12 Months
2.5 Years
B
A
Table 39.2  Incorrect terminology commonly used to describe vascular anomalies
Tumors
Malformations
Biologic name
Incorrect term
Biologic name
Incorrect term
Infantile hemangioma
“Capillary hemangioma”
“Cavernous hemangioma”
“Strawberry hemangioma”
Capillary malformation
“Portwine stain”
“Capillary hemangioma”
Hemangioendothelioma
“Capillary hemangioma”
Lymphatic malformation
Venous malformation
Arteriovenous malformation
“Cystic hygroma”
“Lymphangioma”
“Cavernous hemangioma”
“Arteriovenous hemangioma”

869
Vascular tumors
fibrofatty residuum, redundant skin, or destroyed anatomic
structures.
Head and neck hemangiomas
The majority of IH are small, harmless lesions that can be
monitored under the watchful eye of a pediatrician. However,
a minority of proliferating IH can cause significant deformity
or complications, usually when located on the head or neck.
Ulcerated lesions may destroy the eyelid, ear, nose, or lip. IH
of the scalp or eyebrow can result in alopecia. Periorbital
hemangioma can block the visual axis or distort the cornea,
causing amblyopia. Subglottic hemangioma may obstruct the
airway.
Multiple hemangiomas
Approximately 20% of infants have more than one IH.3 The
term hemangiomatosis designates five or more small (<5 mm)
tumors. These children are more likely to have IH of internal
organs, although the risk is low (~16%).15 The liver is most
commonly affected; the brain, gut, or lung are rarely involved.
Ultrasonography should be considered to rule out hepatic IH.
Hepatic hemangiomas
The liver is the most common extracutaneous site for IH. There
are three subtypes of hepatic hemangioma: focal, multifocal,
or diffuse.16 Although most hepatic IHs are non-problematic
and discovered incidentally, large tumors can cause heart
failure, hepatomegaly, anemia, or hypothyroidism. Focal
hepatic hemangioma is usually asymptomatic and not associ-
ated with cutaneous hemangiomas; the lesion is a rapidly
involuting congenital hemangioma (RICH) that regresses
immediately after birth.16 Occasionally, this tumor can cause
cardiac overload and thrombocytopenia; however, these
symptoms resolve as the tumor involutes. Multifocal hepatic
IH are often accompanied by cutaneous lesions. Although
usually asymptomatic, intrahepatic multifocal lesions can
cause high output cardiac failure, which is managed by oral
pharmacotherapy or embolization. Diffuse hepatic IH can
cause massive hepatomegaly, respiratory compromise, or
abdominal compartment syndrome. Infants are also at risk
for hypothyroidism and irreversible brain injury because the
large tumor volume expresses enough deiodinase to inacti-
vate thyroid hormone.17 Patients require thyroid stimulating
hormone monitoring and, if abnormal, intravenous thyroid
hormone replacement until the IH begins to regress.
Hemangiomas and structural anomalies
There are uncommon presentations of IH with malformations
in the head/neck or lumbosacral regions. PHACE association
affects 2.3% of patients with IH, and consists of a plaque-like
IH in a regional distribution of the face with at least one of
the following anomalies: Posterior fossa brain malformation;
Hemangioma; Arterial cerebrovascular anomalies; Coarcta-
tion of the aorta and cardiac defects; Eye/Endocrine abnor-
malities.18 When ventral developmental defects (Sternal
clefting or Supraumbilical raphe) are present, an “S” is added
(PHACES).18 Of infants, 90% are female and cerebrovascular
anomalies are the most common associated finding (72%).18
Because 8% of children with PHACE association have a stroke
in infancy, these patients should have an MRI to evaluate the
brain and cerebrovasculature.18 Infants are referred for
in its life cycle: the proliferating phase (0–1 year of age);
the involuting phase (1–4 years of age); and the involuted
phase (after 4 years of age). During the proliferating phase,
the histopathologic examination shows clusters of plump
endothelial cells with small vascular channels and minimal
connective tissue.6 During involution, mature blood vessels
are formed. Vascular channels enlarge and are lined by
flattened endothelial cells. Increased extracellular matrix,
multilaminated basement membranes, and pericytes are
deposited around the vessels. After involution, the majority
of the IH is replaced with adipocytes and connective tissue.
All that remains are thin-walled vessels with multilaminated
basement membranes and larger feeding and draining
vessels.6
IH appears to arise from vasculogenesis (formation of
blood vessels from progenitor cells) rather than angiogenesis
(blood vessel formation from pre-existing vasculature).7 It is
likely that IH begins as an intrinsic (genetic) alteration in a
stem cell; its life cycle may be influenced extrinsically by
up- or downregulated local angiogenic factors. The precursor
cell for IH may be a multipotent hemangioma-derived stem
cell (HemSC), which has been isolated.7 They produce human
GLUT1-positive microvessels after clonal expansion in immu-
nodeficient mice. They differentiate into endothelium and
express CD31.7
Several mechanisms may contribute to the rapid enlarge-
ment of IH. Hypoxia may stimulate circulating hemangioma-
derived endothelial progenitor cell (HemEPC) recruitment to
the growing tumor. Increased circulating endothelial progeni-
tor cells have been found in children with IH.8 Local factors,
such as a reduction in anti-angiogenic proteins, also may
potentiate tumor growth during the proliferating phase.9 The
mechanism for IH involution is unknown. As endothelial
proliferation slows, apoptosis increases, and the IH is replaced
by fibrofatty tissue. Apoptosis begins before 1 year of age and
peaks at 24 months, causing a reduction in tumor volume.10
Decreasing circulating maternal estrogens, which are pro-
angiogenic, may contribute to involution. Alternatively,
increased angiogenesis inhibitors in the epidermis overlying
the hemangioma may promote involution.9 The source of
adipocytes during involution are HemSCs, which also may
differentiate into pericytes.7
Clinical features
Infantile hemangioma occurs in approximately 4–5% of Cau-
casian infants.11 IH is more frequent in premature children
and in females (4 : 1).12 The tumor is typically single (80%) and
involves the head and neck (60%), trunk (25%), or extremity
(15%).3 The median age of appearance is 2 weeks; 30–50% are
noted at birth as a telangiectatic stain, pale spot, or ecchymotic
area.3 IH grows faster than the child during the first 9 months
of age (proliferating phase); 80% of its size is achieved by 3.2
(±1.7) months.13 IH is red when it involves the superficial
dermis. A lesion beneath the skin may not be appreciated
until 3–4 months of age when it has grown large enough to
cause a visible mass; the overlying skin may appear bluish.
By age 9–12 months, growth of IH reaches a plateau. After
12 months, the tumor begins to regress (involuting phase); the
color fades and the lesion flattens. Involution ceases in most
children by age 4 years (involuted phase).14 After involution,
one-half of children will have residual telangiectasias, scarring,

870
SECTION III
CHAPTER 39 • Vascular anomalies
ophthalmologic, endocrine, and cardiac evaluation to rule out
these associated anomalies.
LUMBAR association (Lower body infantile hemangioma,
Urogenital anomalies, Myelopathy, Bony deformities, Anorec-
tal malformations, Renal anomalies) is the posterior trunk
equivalent of PHACE.19 The hemangioma is extensive and
superficial. The tumor has minimal postnatal growth and a
high risk of ulceration. The hemangioma typically affects the
sacral area or lumbar region. Patients can have ventral–caudal
malformations (omphalocele, recto-vaginal fistula, vaginal/
uterine duplication, solitary/duplex kidney, imperforate
anus, tethered cord lipomyelomeningocele).19 Ultrasonogra-
phy is obtained to rule-out associated anomalies in infants <4
months of age. MRI is indicated in older infants or when
ultrasonography (US) is equivocal.19
Diagnosis
Most IH are easily diagnosed by history and physical exami-
nation. Fast-flow is confirmed using a hand held Doppler
device. By formal US, IH appears as a soft-tissue mass with
fast-flow, decreased arterial resistance, and increased venous
drainage.20 On MRI, the tumor is isointense on T1, hyperin-
tense on T2, and enhances during the proliferating phase.20
Involuting IH exhibits increased lobularity and adipose tissue;
the number of vessels and flow is reduced. Rarely, biopsy is
indicated if malignancy is suspected or if the diagnosis
remains unclear following imaging studies. If biopsy is
needed, positive erythrocyte-type glucose transporter (GLUT
1) immunostaining differentiates IH from other vascular
tumors and malformations.21
Nonoperative management
Observation
Most IH are simply observed because they typically are small,
localized, and do not involve anatomically important areas.
Only 22% of potentially problematic lesions referred to a
specialist for management are treated during the proliferat-
ing phase.22 Infants are followed closely, on a monthly basis,
during the proliferative phase if a lesion has the potential
to cause obstruction, destruction, or ulceration requiring
intervention. Once the IH has stabilized in growth, patients
are followed annually during the involuting phase if it is
possible. Surgical intervention may be necessary in childhood
for excess skin, residual fibrofatty tissue, or reconstruction of
damaged structures.
Wound care
During the proliferative phase, at least 16% of lesions ulcerate,
the median age being 4 months.23 Superficial IH is prone to
ulceration because the skin is damaged by the tumor. In addi-
tion, arteriovenous shunting reduces oxygen delivery to the
skin, causing ischemia. Consequently, desiccation or minor
injury can cause skin breakdown. Tumors located in trauma-
prone areas are at greater risk for ulceration; the lips, neck,
and anogenital region are the most common locations. To
protect against ulceration, IH in these areas should be kept
moist with hydrated petroleum during the proliferative phase
to minimize desiccation and shearing of the skin. IH in the
anogenital area may be further protected by using a petroleum
gauze barrier to prevent friction from the diaper.
If ulceration develops, the wound is washed gently with
soap and water at least twice daily. Small, superficial areas are
managed by the application of topical antibiotic ointment and
occasionally with a petroleum gauze barrier. Large, deep
ulcers require damp-to-dry dressing changes. To minimize
discomfort, a small amount of topical lidocaine may be
applied no more than four times daily to avoid toxicity. Bleed-
ing from an ulcerated IH is usually minor, and is treated by
applying direct pressure. All ulcerations will heal with local
wound care; usually healing takes at least 2 weeks.
Topical corticosteroid
Topical corticosteroid is relatively ineffective; especially if IH
involves the deep dermis and subcutis.24 Ultrapotent agents
may be effective for a very superficial IH. Although lighten-
ing may occur, if there is deep component, it will not be
affected. Adverse effects include hypopigmentation, cutane-
ous atrophy, and even adrenal suppression.24
Topical timolol
This beta-blocker may be effective for superficial lesions, but
will not affect hemangiomas with a subcutaneous component.
Side effects include alopecia and rash. Because systemic
absorption may occur, it should not be used more than twice
daily in areas where absorption is greater (e.g., eyelids,
mucosa, ulcer).25
Intralesional corticosteroid
Small, well-localized IHs (<3 cm in diameter) that obstruct the
visual axis or nasal airway, or those at risk for damaging
important structures (i.e., eyelid, lip, nose) are best managed
by intralesional corticosteroid (Fig. 39.4). Triamcinolone (not
to exceed 3 mg/kg) will stop the growth of the lesion; two-
thirds will decrease in size.26 The corticosteroid injection lasts
2–3 weeks, and thus infants may require 2–3 injections during
the proliferative phase. Intralesional corticosteroid may cause
subcutaneous fat atrophy (2%). Caution injecting upper eyelid
lesions should be exercised because blindness has been
reported following injection due to embolic occlusion of the
retinal artery.26
Systemic pharmacotherapy
Problematic IH that is >3–4 cm in diameter (and would require
>3 mg/kg of triamcinolone for an injection) is managed by
oral prednisolone or propranolol. Oral corticosteroid has been
used to treat IH for over 40 years and has proven to be very
safe and effective (see Fig. 39.4).27–30 Patients are given pred-
nisolone 3 mg/kg per day for 1 month; the drug is then
tapered by 0.5 cc every 2–4 weeks until it is discontinued
between 10–12 months of age when the tumor is no longer
proliferating.30 The drug is given once a day in the morning,
and infants have monthly outpatient follow-up. Using this
protocol, all tumors will stabilize in growth and 88% will
become smaller (accelerated regression).30 Treatment response
usually is evident within 1 week of therapy by signs of involu-
tion: decreased growth rate, fading color, and softening of the
lesion. Patients do not require prophylaxis against gastric ir-
ritation or prophylactic antibiotics. Around 20% of infants
will develop a cushingoid appearance that resolves during
tapering of therapy.30 Approximately 12% of infants treated
after 3 months of age exhibit decreased gain in height, but

871
Vascular tumors
Fig. 39.4  Management of infantile hemangioma
with pharmacotherapy. (A) Cheek lesion injected
with triamcinolone at 3 months of age.  
(B) Accelerated regression at 12 months of age.
(C) A 3-month-old female with deep infantile
hemangioma of left face prior to initiation of oral
corticosteroid. (D) After 1 month of drug treatment,
the tumor has regressed. (E) A 4-month-old
female with diffuse infantile hemangioma of upper
eyelid causing astigmatism and obstruction. (F)
After 2 months of drug treatment, the lesion has
regressed and astigmatism has diminished.
B
A
C
D
F
E
return to their pretreatment growth curve by 24 months of
age.28
Propranolol is another effective treatment for problematic
infantile hemangioma. Typical dosing is 2 mg/kg per day.31,32
Approximately 90% of tumors will stop growing or regress.
Risks (<3%) include bronchospasm, bradycardia, hypoten-
sion, hypoglycemia, seizures, and hyperkalemia.33–36 Preterm
infants and those <3 months of age are more likely to have
adverse events. Patients usually have cardiology consulta-
tion, electrocardiogram, echocardiogram, glucose/electrolyte
measurements, and frequent blood pressure, heart rate, and
respiratory examinations.32 Inpatient initiation of treatment
is used for premature or infants <3 months of age.32 Potential
contraindications include asthma, glucose abnormalities, heart
disease, hypotension, bradycardia, and PHACES association.32
The drug should be discontinued if the infant is ill because
reduced oral intake can increase the risk of hypoglycemia and
seizures. Patients treated with propranolol experience much
later rebound growth compared with prednisolone, and thus
patients may necessitate much longer treatment. Recently,
concern has been raised about potentially negative long-term
neurocognitive effects of propranolol when given to infants.37
Laser therapy
There is little, if any, role for pulsed-dye laser treatment for
proliferating IH. The laser penetrates only 0.75–1.2 mm into
the dermis, and thus only affects the superficial portion of the
tumor. Although lightening may occur, the mass is not
affected.38,39 These patients have an increased risk of skin
atrophy and hypopigmentation.39 The thermal injury deliv-
ered by the laser to the ischemic dermis increases the risk
of ulceration, pain, bleeding, and scarring.40 Nevertheless,
pulsed-dye laser is indicated during the involuted phase to
fade residual telangiectasias.
Operative management
Proliferative phase
Resection of IH generally is not recommended during the
early growth phase. The tumor is highly vascular during this

872
SECTION III
CHAPTER 39 • Vascular anomalies
smaller. Because the extent of the excision is reduced, the scar
is less noticeable. It is preferable to intervene surgically
between 3 and 4 years of age. During this period, the infantile
hemangioma will no longer improve significantly, and the
procedure is performed before the child’s long-term memory
and self-esteem begin to form, at about 4 years of age.14 Some
parents may elect to wait until the child is older and able to
make the decision to proceed with operative intervention,
especially if the deformity is minor.
Congenital hemangiomas
Clinical features
There are rare hemangiomas that arise in the fetus, are fully-
grown at birth, and do not have postnatal growth.42–44
Congenital hemangiomas are red-violaceous with coarse tel-
angiectasias, central pallor, and a peripheral pale halo. These
lesions are more common in the extremities, have an equal sex
distribution, and are solitary with an average diameter of
5 cm.42–44 There are two forms: rapidly involuting congenital
hemangioma (RICH) and non-involuting congenital hemangioma
(NICH). RICH involutes rapidly after birth and 50% of lesions
have completed regression by 7 months of age; the remaining
tumors are fully involuted by 14 months.42,44 RICH affects the
head or neck (42%), limbs (52%), or trunk (6%). RICH does
not leave behind a significant adipose component, unlike
period and there is a risk for blood loss, iatrogenic injury, and
an inferior outcome compared with excising residual tissue
after the tumor has regressed. Nevertheless, in experienced
surgical hands, there are indications for operative interven-
tion during this phase: (1) failure or contraindication to
pharmacotherapy; (2) well-localized tumor in an anatomically
favorable area; and (3) if resection will be necessary in the
future and the scar would be the same (Fig. 39.5). Circular
lesions located in visible areas, particularly the face, are best
removed by circular excision and purse-string closure.41 This
technique minimizes the length of the scar as well as distor-
tion of surrounding structures. Lenticular excision of a circular
hemangioma results in a scar as long as three times the diam-
eter of the lesion. In comparison, a two-stage circular resection
followed by lenticular excision/linear closure 6–12 months
later will leave a scar approximately the same length as the
diameter of the original lesion.41 Lenticular excision and linear
closure is preferred in certain facial locations, such as the lips
and eyelids (Video 39.1
).
Involuted phase
Approximately 50% of IH leave behind fibrofatty tissue or
damaged skin after the tumor regresses causing a deformity
(Fig. 39.6). Sometimes a child requires reconstruction of
damaged structures (i.e., nose, ear, lip). Operative interven-
tion after 3 years of age is much safer than excision during the
proliferative phase because the lesion is less-vascular and
A
B
Fig. 39.5  Operative management of proliferating
infantile hemangioma. (A) A 7-month-old female
with a well-localized, ulcerated lesion in an
anatomically favorable area. The tumor was
removed by transverse lenticular excision and
linear closure because of its location near the
hairline. (B) At 6 weeks postoperatively. (C) A
4-month-old female with a rapidly growing,
ulcerated retroauricular tumor at risk for causing a
prominent ear deformity. (D) Following resection
and linear closure in retroauricular sulcus.
C
D

873
Vascular tumors
Fig. 39.6  Operative management of involuting
phase infantile hemangioma. (A) A 2-year-old
female with residual fibrofatty residuum and
alopecia. A one-stage lenticular excision was
chosen because the scalp is an unfavorable
location for circular closure, and the linear scar is
concealed by hair. (B) Note that the length of the
scar is approximately three times the diameter of
the tumor. (C) A 3-year-old male with residual
fibrofatty tissue of the upper lip. (D) The lesion
was removed using a lenticular excision with
placement of the scar along the vermilion-
cutaneous junction. (E) An 8-month-old female
with a large nasal hemangioma. (F) The same
patient at 3 years old. The tumor has involuted
facilitating the operative procedure. (G) Following
circular excision and purse-string closure to limit
the length of scar. (H) At 3 months following
second-stage circular excision and purse-string
closure.
B
A
D
C
E
F
G
H
common IH. NICH, in contrast, does not regress; it remains
unchanged with persistent fast-flow.44 It involves the head or
neck (43%), limbs (38%), or trunk (19%).43
Management
RICH usually does not require resection in infancy because
it regresses so quickly. Occasionally, RICH is complicated
by congestive heart failure, and this is controlled by cortico-
steroid or embolization as the lesion involutes. After regres-
sion, RICH may leave behind atrophic skin and subcutaneous
tissue. Reconstruction with autologous grafts (fat, dermis) or
acellular dermis may be indicated. NICH is rarely problematic
in infancy; it is observed until the diagnosis is clear. Resection
of NICH may be indicated to improve the appearance of the
affected area, as long as the surgical scar will be less noticeable
than the lesion.
Kaposiform hemangioendothelioma
Clinical features
Kaposiform hemangioendothelioma (KHE) is a rare vascular
neoplasm (1/100 000 children) that is locally aggressive, but

874
SECTION III
CHAPTER 39 • Vascular anomalies
affected sites include cheek (29%), oral cavity (14%), scalp
(11%), forehead (10%), eyelid (9%), or lips (9%).54
Once established, PG rarely spontaneously heals. PGs
require intervention to control likely ulceration and bleeding.
Numerous methods have been described: curettage, shave
excision, laser therapy, and excision.54,55 Because the lesion
extends into the reticular dermis, it may be out of the reach
of the pulse-dye laser, cautery, or shave excision. Conse-
quently, these modalities have a recurrence rate of approxi-
mately 50%.55,56 Full-thickness excision is a more definitive
treatment.54,55
Vascular malformations
Capillary malformation
Pathogenesis
Capillary malformation (CM) is the modern term for the
antiquated “portwine” stain. The geographic patterns of CMs
are often regional or dermatomal (particularly with branches
of the trigeminal nerve), suggesting a relationship to the
developing nervous system. The cutaneous flush of a CM
may, in part, be due to an inability of these vessels to constrict
secondary to diminished sympathetic innervation. Recently,
the causative mutation for CM has been identified in GNAQ
in both syndromic (i.e., Sturge–Weber syndrome) and sporadic
lesions.56
Clinical features
Capillary malformations occur anywhere on the body; they
can be localized or extensive. Rarely, they are multiple and
generalized, such as in Sturge–Weber syndrome. CM should
not be confused with a nevus flammeus neonatorum, the most
common vascular birthmark, seen in 50% of white neonates.
These macular stains are popularly referred to as “angel kiss”
on the forehead, eyelids, nose, and upper lip or “stork-bite”
in the nuchal area. These predictably fade by 2 years of age,
representing a minor transient dilatation of dermal vessels.
The cutaneous discoloration is usually, but not always,
evident at birth because the stain may be hidden by the ery-
thema of neonatal skin. CM often causes psychological con-
cerns as the pink color of childhood darkens and the skin
thickens, sometimes with raised fibrovascular cobblestoning.
Facial CMs often occur in a dermatomal distribution and
frequently are noted to overlap sensory dermatomes, crossing
the midline or occurring bilaterally. Pyogenic granuloma may
develop in CM, causing ulceration and bleeding. CM also can
lead to soft-tissue and skeletal overgrowth below the stain.
When located on the face, hypertrophy of the lip, cheek, or
forehead can occur; the lip is most commonly affected.57
Enlargement of the maxilla or mandible can result in an
occlusal cant (i.e., vertical maxillary overgrowth) with
increased dental show and malocclusion.
An extensive CM in an extremity is often associated with
increased circumference and limb length discrepancy. CMs in
truncal or extremity distributions rarely demonstrate the
evolution of textural and color changes seen in facial CMs.
CMs often accompany developmental defects of the central
neural axis. An occipital CM, often with an associated hair
tuft, can overlie an encephalocele or ectopic meninges. A
does not metastasize.45–47 Although one-half of lesions are
present at birth, KHE may develop during infancy (58%),
between ages 1–10 years (32%) or after 11 years of age (10%);48
adult-onset is rare.49 KHE has an equal sex distribution, is
solitary, and affects the head/neck (40%), trunk (30%), or an
extremity (30%).48 The tumor is often >5 cm in diameter and
appears as a flat, reddish-purple, edematous lesion.50 KHE
causes a visible deformity as well as pain. Approximately
70% of patients have Kasabach–Merritt phenomenon (KMP)
(thrombocytopenia <25 000/mm3, petechiae, bleeding).51 KHE
does not exhibit rapid postnatal growth; however, the tumor
can expand with the onset of KMP. KHE partially regresses
after 2 years of age, although it usually persists long term,
causing chronic pain and stiffness.51 KHE has overlapping
clinical and histopathologic features with another tumor,
tufted angioma, suggesting they are on the same neoplastic
spectrum. KMP also may complicate tufted angioma, which
has a similar anatomic distribution as KHE, but is more
erythematous and plaque-like.
KHE is diagnosed by history, physical examination, and
imaging. MRI is indicated for diagnostic confirmation and
to assess the extent of the tumor. MRI shows poorly-defined
margins, small vessels, and invasion of adjacent tissues.
T2-hyperintensity, postgadolinium enhancement, and signal-
voids may also be present. Histologically, KHE has infiltrat-
ing sheets or nodules of endothelial cells lining capillaries.6
Hemosiderin-filled, slit-like vascular spaces with red blood
cell fragments, as well as dilated lymphatics, are present.
Tufted angioma is distinguished from KHE by small tufts
of capillaries (“cannonballs”) in the middle to lower-third of
the dermis.6
Management
Most lesions are extensive, involving multiple tissues, and
well beyond the limits of resection. Patients with KMP require
systemic treatment to prevent life-threatening complications.
Large, asymptomatic tumors without KMP are also managed
with pharmacotherapy to minimize fibrosis and subsequent
long-term pain and stiffness. Vincristine is first-line therapy;
the response rate is 90%.52 KHE does not respond as well to
second-line drugs, interferon (50%), or corticosteroid (10%).52
Recently, patients have been treated with sirolimus as first-
line therapy with good efficacy.53 Thrombocytopenia is not
significantly improved with platelet transfusion because the
platelets are trapped in the tumor. Platelet transfusion also
worsens swelling and should be avoided unless there is active
bleeding or a surgical procedure is planned. By 2 years of age,
the tumor has usually undergone partial involution and the
platelet count normalizes.
Pyogenic granuloma
Pyogenic granuloma (PG) is neither “pyogenic” nor “granu-
lomatous”. Some pathologists call it lobular capillary hemangi-
oma.54 PG is a solitary, red papule that grows rapidly on a
stalk. It is small, with an average diameter of 6.5 mm; the
mean age of onset is 6.7 years.54 The male to female ratio is
2 : 1. PG is commonly complicated by bleeding (64%) and
ulceration (36%).54 PG primarily involves the skin (88%), but
can also involve mucous membranes (11%). It is distributed
on the head or neck (62%), trunk (19%), upper extremity
(13%), or lower extremity (5%).54 In the head and neck region,

875
Vascular malformations
incision. Small fibrovascular nodules or pyogenic granulomas
are easily excised. Severe cutaneous thickening and cobble-
stoning can be resected and reconstructed by linear closure,
skin grafts, or local flaps.
Cutis marmorata telangiectasia congenita
Cutis marmorata telangiectasia congenita (CMTC) manifests
as congenital cutaneous marbling, even at normal tempera-
tures, and becomes more pronounced with lower temperatures
or with crying.65 The involved skin is depressed in a serpigi-
nous reticulated pattern and has a deep purple color. Differ-
ential diagnosis includes cutis marmorata (or livedo reticularis)
and reticular hemangioma. Cutis marmorata is merely an
accentuated pattern of normal cutaneous vascularity. It is seen
as a transient mottling pattern when the child is placed in a
low-temperature environment but disappears on warming.
CMTC occurs sporadically in an equal gender distribution.
CMTC can cause ulceration and may be localized, segmental,
or generalized. It most frequently involves the trunk and
extremities; it is typically unilateral (65%) and involves a
lower extremity (69%).65 The affected extremity is often hypo-
plastic. Almost all infants show improvement during the first
year of life that continues into adolescence. Atrophy, pigmen-
tation, and ectasia of the superficial veins often persist into
adulthood. CMTC may be associated with hypoplasia of the
iliac and femoral veins.
Macrocephaly-capillary malformation (M-CM) is a clini-
cally discrete condition.66 The vascular lesions are patchy,
reticular CM (not CMTC or cutis marmorata). The stains com-
monly occur on the nose and philtrum, and may be present
on the trunk or extremities. Unlike CMTC, the vascular mal-
formation in M-CM does not ulcerate or fade. In addition, the
lower limb is often hypertrophied.66 These children have a
high risk for neurologic abnormalities, including develop-
mental delay, megalencephaly, and hydrocephalus.66
Lymphatic malformation
Pathogenesis
Investigations support the venous origin of lymphatics, rather
than derivation from mesenchymal structures. One etiologic
theory for lymphatic malformations (LMs) is that either
anlagen of the sacs or their sprouting lymphatic channels
become “pinched off” from the main lymphatic system,
leading to aberrant collections of lymphatic fluid-filled spaces.
Another theory attributes LMs to abnormal budding of the
lymphatic system with a loss of connection to the central
lymph channels or to development of lymphatic tissue in
capillary stain on the posterior thorax can signify an underly-
ing arteriovenous malformation of the spinal cord. A CM
over the cervical or lumbosacral spine is a red flag for occult
spinal dysraphism, lipomeningocele, tethered spinal cord,
and diastematomyelia.
Management
In patients with an upper facial CM, as well as V1–V2 distribu-
tion, the possibility of Sturge–Weber syndrome should be
considered. Pulse-dye laser therapy can improve the appear-
ance of CM by lightening the color; the head and neck region
responds better than the extremities.58,59 Outcome also is
superior for smaller lesions and those treated at a younger
age.60,61 Of the patients, 15% achieve at least 90% lightening,
65% improve 50–90%, and 20% respond poorly.62 A higher rate
of complications, including pigmentary changes and hyper-
trophic scarring, is reported in individuals with darker skin.
After pulse-dye laser treatment, CM often re-darkens over
time.63
Facial CM is best treated with pulse-dye laser early in
childhood, before memory or self-awareness begins. Interven-
tion in infancy may achieve superior lightening of the lesion,
as well as reduce the risk of subsequent darkening and hyper-
trophy, compared with photocoagulation in later childhood.61
Infants can be treated with pulse-dye laser while awake (using
topical anesthesia), depending on the size and location of the
CM. After infancy, it is more difficult to restrain an awake
child and general anesthesia is preferred, unless the lesion is
small. Adolescents generally tolerate laser treatment while
awake, depending on the location and extent of the CM.
Multiple treatments, spaced 6 weeks apart, are often required
until the CM fails to improve with additional treatments.
Some families may elect to wait to treat CM of the trunk or
extremities until the child is old enough to make the decision.
Similarly, patients may wish to undergo laser therapy only if
their lesion darkens and becomes more visible over time.
Because overgrowth often is not present at birth and is
progressive, most patients do not require contouring until
adolescence or adulthood, more frequently labial (Fig. 39.7).
Cutaneous fibrovascular hypertrophy occurs over many
years, requiring intervention in adulthood.64 Malocclusion
can be corrected in adolescence with orthodontic manipula-
tion. If orthodontics is insufficient, an orthognathic procedure
is considered when the jaws are completely grown. Facial
asymmetry caused by overgrowth of the zygoma, maxilla, or
mandible can be improved by contour burring.
Trunk or extremity soft tissue overgrowth can be associated
with increased subcutaneous adipose tissue.65 Suction-assisted
lipectomy can improve contour while avoiding a large
Fig. 39.7  Management of capillary malformation.
(A) A 48-year-old woman with a capillary
malformation of the lower face causing labial
overgrowth. (B) The appearance after pulsed-dye
laser treatment of the chin and contouring of the
hypertrophied lower lip using a transverse mucosal
excision.
A
B

876
SECTION III
CHAPTER 39 • Vascular anomalies
to sepsis. Cutaneous vesicles can bleed and cause malodor-
ous drainage. Oral lesions may lead to macroglossia, poor
oral hygiene, and caries. Swelling due to bleeding, localized
infection, or systemic illness may obstruct vital structures.
Infants with cervicofacial LM may require tracheostomy. Bony
overgrowth is another complication; the mandible is most
commonly involved resulting in an open bite and progna-
thism. Thoracic or abdominal LM may lead to pleural, peri-
cardial, or peritoneal chylous effusions. Periorbital LM causes
a permanent reduction in vision (40%), and 7% of patients
become blind in the affected eye.69 Generalized lymphatic
anomaly and Gorham–Stout disease present with multifocal
or osteolytic bony lesions, splenic involvement, as well as
pleural and/or pericardial effusions; lymphangiectasia of the
bowel with protein-losing enteropathy also may be present.70
Lymphatic malformations are diagnosed by history and
physical examination. Small, superficial lesions do not require
further evaluation. Large or deep LMs are assessed by MRI to
(1) confirm the diagnosis; (2) define the extent of the malfor-
mation; (3) plan treatment. LM appears as either a macrocystic,
microcystic, or combined lesion with septations of variable
thickness. It is hyperintense on T2-weighted sequences and
does not show diffuse enhancement.20 Although US is not as
accurate as MRI, it may provide diagnostic confirmation or
document intralesional bleeding. Ultrasound findings for
macrocystic LM include anechoic cysts with internal septa-
tions, often with debris or fluid-fluid levels.20 Microcystic LM
appears as ill-defined echogenic masses with diffuse involve-
ment of adjacent tissues.20 Histologic confirmation of LM is
rarely necessary. LM shows abnormally walled vascular
spaces with eosinophilic, protein-rich fluid, and collections of
lymphocytes. Immunostaining with the lymphatic markers
D2–40 and LYVE-1 are positive.6
Management
A lymphatic malformation is a benign lesion; intervention is
not mandatory. Small or asymptomatic lesions may be
observed. An infected LM often cannot be controlled with oral
antibiotics and intravenous antimicrobial therapy may be
required. Intervention for LMs is reserved for symptomatic
lesions that cause pain, significant deformity, or threaten vital
structures.
Sclerotherapy
Sclerotherapy is the first-line management for large or prob-
lematic macrocystic/combined LMs (Fig. 39.8). Cysts are
aspirated followed by the injection of an inflammatory sub-
stance, which causes scarring of the cyst walls to each other.
Sclerotherapy is preferred and has a lower complication rate
than attempted resection.71 Several sclerosants are used to
shrink LMs: doxycycline, sodium tetradecyl sulfate (STS),
ethanol, bleomycin, and OK-432. The authors prefer doxycy-
cline because it is effective (83% reduction in size) and safe
(<5% risk of skin ulceration).71 STS is the second-line agent.
Ethanol is an effective sclerosant but has the highest complica-
tion rate.
The most common complication of sclerotherapy for LM
is cutaneous ulceration (<5%). Ethanol is associated with
additional systemic toxicity: CNS depression, pulmonary hy-
pertension, hemolysis, thromboembolism, and arrhythmias.71
Extravasation of the sclerosant into muscle can cause atrophy
aberrant locations. Recently, sporadic LMs have been found
to have a somatic mutation in PIK3CA.67 Lymphedema, a
generalized type of lymphatic anomaly in the limbs, can be
hereditary, and mutations in VEGFR3, FOXC2, SOX18, CCBE1
are responsible for some primary forms (Table 39.3).68
Clinical features
Lymphatic malformations are characterized by the size of
the malformed channels: microcystic, macrocystic, or com-
bined. Macrocystic lesions are defined as cysts large enough
to be punctured by a needle and treated by sclerotherapy.
LM is most commonly located on the head and neck; other
common sites are the axilla, chest, and perineum. Lesions are
soft and compressible. The overlying skin may be normal,
have a bluish hue, or be studded with pink-red vesicles. LM
typically causes deformity and psychosocial issues, especially
when it involves the head and neck. The two most common
complications associated with LM are bleeding and infection.
Intralesional bleeding causes ecchymotic discoloration, pain,
or swelling. Infection is common and can progress rapidly
Table 39.3  Vascular anomalies with known genetic mutations
Condition
Mutated gene
Inheritance
Venous malformations
  Sporadic venous
malformation (VM)
TIE2 (40–50%)
  Verrucous venous
malformation (VVM)
MAP3K3
Somatic
  Glomuvenous malformation
(GVM)
Glomulin
Dominant
  Cutaneomucosal venous
malformation (VMCM)
TIE2
Dominant
  Cerebral cavernous
malformation (CCM)
KRIT1
Dominant
Lymphatic malformations
  Sporadic lymphatic
malformation
PIK3CA
Somatic
  Familial congenital primary
lymphedema
VEGFR3
Dominant
  Lymphedema-distichiasis
FOXC2
Dominant
  Lymphedema-hypotrichosis-
telangiectasia
SOX18
Recessive
  Hennekam syndrome
CCBE1
Recessive
Arteriovenous malformations
  Capillary malformation-
arteriovenous malformation
RASA1
Dominant
  Hereditary hemorrhagic
telangiectasia type 1
(HHT1)
ENG
Dominant
  Hereditary hemorrhagic
telangiectasia type 2
(HHT2)
ACVRLK1
Dominant
  PTEN-associated vascular
anomaly
PTEN
Dominant

877
Vascular malformations
bleeding, infection, distortion of vital structures, or significant
deformity; (2) symptomatic macrocystic/combined LM that
no longer can be managed with sclerotherapy because all
macrocysts have been treated; (3) small, well-localized LM
(microcystic or macrocystic) that may be completely excised
(Fig. 39.9). When considering resection, the postoperative
scar/deformity following removal of the LM should be
weighed against the preoperative appearance of the lesion.
For diffuse malformations, staged resection of defined
anatomic areas is recommended. Subtotal excision of prob-
lematic areas, such as bleeding vesicles or a hypertrophied lip,
should be carried out rather than an attempting “complete”
resection that might result in a worse deformity than the
malformation itself. Macroglossia may require reduction to
return the tongue to the oral cavity or to correct an open-
bite deformity. Bony overgrowth is improved by osseous
C
B
A
Fig. 39.8  Management of macrocystic lymphatic malformation. (A) A 3-year-old female with lymphatic malformation of the left orbit causing exotropia and ptosis.
(B) Axial T2 MR shows a large hyperintense lesion with multiple, thin internal septations in the superolateral compartment of the orbit. (C) Post-contrast T1 MR depicts
septal enhancement. There are two different signal intensities due to fluid-fluid levels from intralesional bleeding. (D) Fluoroscopic image following needle aspiration and
the injection of opacified doxycycline. (E) Post-treatment MR demonstrates almost complete resolution of the lymphatic malformation. (F) The patient is asymptomatic 4
months following sclerotherapy. (Reprinted from Greene AK, Perlyn CA, Alomari AI. Management of lymphatic malformations. Clin Plast Surg. 2011:38:75–82, with
permission from Elsevier.)
D
E
F
and contracture. An LM often re-expands over time and thus
patients often need repeated treatment over the course of
their lifetime. If a problematic LM recurs and macrocysts are
no longer present, resection is the next alternative. Recently,
bleomycin sclerotherapy has shown efficacy for microcystic le-
sions. This modality can be considered for problematic lesions
where resection would unfavorable (e.g., face) and where there
is a mild/moderate deformity; approximately 10% reduction
in the size of the malformation can be expected.72
Resection
Attempts at extirpation of LMs can cause significant morbid-
ity: major blood loss, iatrogenic injury, and deformity. Excision
is usually subtotal because LM involves multiple tissue planes
and important structures; recurrence is common. Resection
is reserved for (1) symptomatic microcystic LM causing

878
SECTION III
CHAPTER 39 • Vascular anomalies
Venous malformation
Pathogenesis
Venous malformation (VM) results from an error in vascular
morphogenesis. Lesions are composed of thin-walled, dilated,
sponge-like channels of variable size and mural thickness.6
There is a normal-appearing endothelial lining; it is the
smooth muscle architecture that is abnormal. Smooth muscle
alpha-actin staining demonstrates decreased smooth muscle
cells that are arranged in clumps rather than concentrically.6
This mural abnormality probably accounts for the tendency
contouring and malocclusion may require orthognathic
correction.
Bleeding or leaking cutaneous vesicles can be controlled by
resection if they are localized and the wound can be closed by
direct approximation of tissues. Vesicles often recur through
the scar. Large areas of vesicular bleeding or drainage are best
managed by sclerotherapy or carbon dioxide laser; alterna-
tively, wide resection and skin graft coverage is required.
Microcystic vesicles involving the oral cavity respond well to
radiofrequency ablation.73 Patients and families are counseled
that LM can expand following any intervention, and thus
additional treatments are often required in the future.
Fig. 39.9  Operative management of lymphatic
malformation. (A) Newborn male with a large
macrocystic lymphatic malformation of the right
face and neck. (B) Age 2 years. Following
sclerotherapy the child has residual skin excess
with microcystic lymphatic malformation. (C) At 6
weeks following neck-lift to remove redundant skin
and malformation using a peri-auricular incision.
(D) A 7-year-old male with diffuse, bleeding
microcystic lymphatic vesicles of the lower
extremity. (E) Following resection. (F) Split-
thickness skin graft coverage of wound. (G) Healed
graft 6 months postoperatively.
A
B
C
D
E
F
G