Phẫu Thuật Tạo Hình Grabb & Smith’s (Bản Cập Nhật – Kevin C. Chung)

Cleft Palate
In comparison to cleft lip repair which exemplifies the fine balance between aesthetics and function, the
objectives of palatoplasty are largely functional in nature. Clefts of the hard palate lead to feeding
difficulties due to the inability to generate negative intraoral pressure and allow reflux of food between
the nose and mouth. Clefts of the soft palate result in disruption of the velopharyngeal port and
subsequent speech dysfunction. Therefore, the primary goals of palatoplasty are to separate the oral and
nasal cavities and create a competent velopharyngeal port. Secondary goals include the avoidance of a
palatal fistula and the prevention of maxillary growth disturbance.
When attempting to understand the various techniques of palatoplasty, it is beneficial to visualize the
hard and soft palate as separate entities. In classic descriptions and illustrations of cleft palate repairs, the
hard and soft palate closures were often amalgamated together to encompass a single repair technique.
Although this is accurate to the technique of the individual surgeon, it may be confusing to the novice
learner. A better approach is to realize that the various hard and soft palate repair techniques can be used
interchangeably. The decision of which techniques to employ should be dictated by the underlying cleft
morphology (Table 25.2).
TABLE 25.2
Selection of Palate Repair Technique Based on Cleft Morphology
Cleft Type
Hard Palate Repair
Soft Palate Repair
Isolated cleft of soft palate (Veau 1)
None, or small midline extension onto hard palate
Intravelar veloplasty or Furlow
Incomplete cleft of hard and soft palate (Veau II)
von Langenbeck, V-Y pushback, or Bardach 2-flap
Intravelar veloplasty or Furlow
Unilateral complete cleft palate (Veau III)
Bardach 2-flap
Intravelar veloplasty or Furlow
Bilateral complete cleft palate (Veau IV)
Bardach 2-flap + vomer flaps
Intravelar veloplasty or Furlow
Submucous cleft palate
None
Intravelar veloplasty or Furlow
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Hard Palate Closure Techniques
The techniques for hard palate repair are all variations around the design of axially based mucoperiosteal
flaps supplied primarily by the greater palatine vessels. Flap elevation in the hard palate universally
requires separation of the oral and nasal mucosa which are then mobilized to the midline and
reapproximated separately to provide two-layer closure of the hard palate cleft. One of the earliest forms
of hard palate repair was the von Langenbeck technique introduced in 1849, which is still used today. The
von Langenbeck employs two lateral releasing incisions just medial to the alveolar ridge ending just
posterior to the maxillary tuberosity. The midline incision follows the cleft margin at the junction of the
oral and nasal mucosa which is then separated to form two leaflets. The bilateral mucoperiosteal flaps are
undermined and elevated off the intervening palatal bone between the two incisions by creating two
bipedicled flaps based off the greater palatine vessels posteriorly and the sphenopalatine arteries
emanating from the incisive foramen anteriorly (Figure 25.8A). Nasal closure is achieved first, followed
by medialization of the bipedicled flaps to close the oral side in the midline. In the original description,
the lateral relaxing incisions are left to heal by secondary intention.
FIGURE 25.8 Hard palate closure techniques. Note that each closure is paired with a soft palate intravelar veloplasty repair in
these example images.
A variation of the von Langenbeck repair is the Veau-Willard-Kilner technique, also known as a V-Y
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pushback. A similar lateral releasing incision is performed just within the alveolar ridge but is then
angled back toward the anterior aspect of the cleft margin to create two posteriorly based mucoperiosteal
flaps that can then be pushed back in V-Y fashion (Figure 25.8B). The Veau-Willard-Kilner repair offers the
added benefit of increasing palatal length through the retropositioning of the mucoperiosteal flaps to
assist with velopharyngeal competency. The primary critique of this repair is that it results in a large area
of denude palate centrally leading to potential maxillary growth disturbance and secondary scar
contracture with foreshortening of the initial palatal pushback. 40,41
The Bardach two-flap palatoplasty was originally described in 1967 and involves extending the lateral
releasing incisions around alveolar margin in continuous fashion into the cleft margin. The posteriorly
based mucoperichondrial flaps are then extensively undermined to the level of the posterior hard palate.
The greater palatine neurovascular bundles are identified and circumferentially dissected for additional
mobilization of the mucoperiosteal flaps. The flaps can then be mobilized to the midline following nasal
mucosal closure to provide a robust oral closure to the cleft Figure 25.8C. In the case of a complete cleft
palate, the apices of the Bardach flaps can be transposed across the cleft anteriorly and closed directly
behind the alveolar margin, thereby providing an oral closure over the alveolar fistula from the palatal
side. The lateral relaxing incision lines can usually be closed loosely. Despite the versatility of the Bardach
technique, it does not increase palatal length following flap elevation and inset and therefore is usually
paired with a lengthening soft palate repair technique.
For bilateral complete cleft palates, additional flap elevation is required to achieve a durable two-layer
hard palate closure. In these instances, mucoperiosteal flaps elevated from the vomer provide additional
tissue that can be recruited into the nasal side closure. The original vomer flaps were inferiorly based
with incisions high up on the nasal septum with subsequent downward reflection of the
mucoperichondrium. Unfortunately, these inferiorly based vomer flaps resulted in a high incidence of
maxillary growth disturbance and fistula, leading to their abandonment. The technique was modified
with a midline incision on the caudal margin of the vomer with superior reflection of the two septal
mucosa flaps in opposite directions. These superiorly based vomer flaps can then be inset to the lateral
nasal mucosa to reconstitute the nasal side closure in bilateral clefts. The oral side closure can then be
achieved as previously described with the Bardach technique by providing durable two-layer hard palate
closure.
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Soft Palate Closure Techniques
The soft palate consists of three distinct layers: oral mucosa, muscle layer, and nasal mucosa. Early forms
of palate repair consisted of simple midline reapproximation of these structures but failed to correct the
aberrant levator muscle insertion to the posterior hard palate. The intravelar veloplasty was the first
technique to address the underlying muscle abnormality. This technique requires delamination of all
three soft palate layers with complete release of the anterior insertion of the levator muscles from the
posterior aspect of the hard palate and midline cleft margin. The levator muscles are then transposed
across the midline and reapproximated at the posterior aspect of the soft palate. This technique
reconstitutes the velopharyngeal sling resulting in dynamic palatal elevation to separate the oropharynx
and nasal pharynx during swallowing and phonation. Additional modifications of this technique
including transection of the tensor veli palatini tendon and extensive dissection of the levator muscle
from the oral and nasal mucosa for greater mobility of the levator muscles. Despite effectively recreating
the normal orientation of the velopharyngeal musculature, the primary critique of the intravelar
veloplasty is that it does not significantly increase palatal length.
One of the greatest contributions to cleft palate repair was the introduction of the double opposing Z-
plasty technique by Furlow. 42 This elegant repair uses reversed Z-plasties based on the cleft midline to
attain simultaneous levator muscle repositioning as well as palatal lengthening through the transposition
of the Z-plasty limbs. The first step in the Furlow palatoplasty is to design the oral side Z-plasty. In the
Furlow repair, each Z-plasty consists of a combined musculomucosal flap and a contralateral mucosal
flap. The musculomucosal flaps are always posteriorly based, and the mucosal flaps are anteriorly based.
The most challenging aspect of elevating the Z-plasty flaps is separating the delicate nasal mucosa from
the overlying levator muscle. Therefore, for the right-handed surgeon, the left-sided oral Z-plasty is
oriented from anterior to posterior and a posteriorly based musculomucosal flap elevated away from the
nasal mucosa (Figure 25.9A) in forehand fashion. The contralateral right-sided oral Z-plasty incision is
oriented posterior to anterior, and an anteriorly based oral mucosa flap is elevated. The subsequent nasal-
side Z-plasty is designed as the inverse of oral side with the same principle of the musculomucosal flap
being posteriorly based and the mucosal flap being anteriorly based. The nasal-side Z-plasty is
transposed moving musculomucosal flap posteriorly and bringing the levator muscle to its normal
transverse orientation across the posterior soft palate (Figure 25.9B). The oral-size Z-plasty limbs are then
transposed and the levator muscles secured to one another under appropriate tension followed by
completion of the oral-side closure (Figure 25.9C). The primary drawback to the Furlow technique is the
sacrifice of width to achieve length resulting in tension transversely across the palatal closure. This makes
application of the Furlow technique to wide clefts more challenging. This shortcoming can be remedied
through additional hard palate mucoperiosteal undermining, infracturing of the hamulus, or dissection of
the greater palatine neurovascular bundle. In addition, moving the cuts of the Z-plasties more posteriorly
will result in greater mobility in the flaps, as they are less anchored to the bony tethers of the hard palate
and gain distensibility from the looser attachments of the lateral pharyngeal mucosa. The palatal
lengthening achieved with the Furlow repair makes it versatile as both a primary repair and a secondary
revision procedure for patients with persistent velopharyngeal insufficiency (VPI). Recent retrospective
studies have demonstrated that patients undergoing Furlow palatoplasty have improved speech
outcomes in comparison with other techniques. 43
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FIGURE 25.9 Furlow double opposing Z-plasty technique. A. Design of the incisions: Dotted blue lines mark the oral side Z-
plasty with the central limb as the cleft margin. Dotted red lines on the soft palate mark the nasal side Z-plasty. Black dotted
lines denote the junction of the hard and soft palate. The X marks the point where the tensor tendon traverses the hamulus and
fuses with the levator aponeurosis. Red circles delineate the location of the greater palatine pedicle. B. Transposition and inset
of the nasal side Z-plasty with reorientation of the right levator muscle to its normal transverse orientation. C. Final closure after
transposition of the oral side Z-plasty with overlap of the levator muscles in the midline and restoration of the levator sling.
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Buccal Fat Pad Flaps
Recent publications have described the significant utility of the buccal fat pads as flaps that can be
employed in primary cleft closure. 44 The buccal fat pad can be harvested and delivered into the oral
cavity via a simple incision in the buccal sulcus. Once located the fat pad can be mobilized and used to
line the open lateral relaxing incision defects in hard palate repairs to protect the exposed palatine vessels
as well as prevent secondary scarring and contracture thought to lead to restriction of transverse growth
over time. In addition, the buccal fat pad flaps can be used as a middle lamella in the space just behind
the posteriorly transposed muscles of an intravelar veloplasty and a Furlow repair. Filling the void with
the buccal fat pad flap has the potential to decrease the incidence of fistula formation as well as prevent
secondary contracture and retropositioning of the transposed muscles of the soft palate after primary
repair. 44
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Secondary Speech Surgery
VPD refers to the inability of the soft palate to close consistently and completely against the posterior
pharynx during phonation causing nasal air escape and hypernasal resonance. If allowed to persist, cleft
patients with VPD can develop compensatory misarticulations such as glottal stops, pharyngeal
fricatives, nasal fricatives, and pharyngeal plosives due to the inability to produce sounds normally with
a functional velopharyngeal port. VPD is further subdivided into VPI, velopharyngeal incompetence, and
velopharyngeal mislearning depending on the underlying abnormality. VPI is caused by insufficient
palatal length to achieve velopharyngeal port closure despite normal palatal elevation with phonation. In
contrast, velopharyngeal incompetence refers to aberrant palatal elevation or motion resulting in lack of
velopharyngeal port closure despite adequate palatal length. Velopharyngeal mislearning results when a
patient continues to use abnormal speech patterns despite a normally functioning palate with adequate
length and closure. Differentiation of the subtype of VPD is critical, as it dictates the subsequent
treatment. VPI is an anatomic problem and will not improve with speech therapy and therefore requires
surgical intervention. Velopharyngeal incompetence can be improved with speech therapy if normal
palatal motion can be learned by the patient. In rare circumstances this is not possible and surgical
intervention may be required. Velopharyngeal mislearning is treated with speech therapy alone.
The determination of VPD subtype is contingent upon perceptual speech evaluation by a qualified speech
pathologist who has specialized training in cleft pathology and speech patterns. Additional modalities
such as pressure-flow testing and video nasendoscopy are important adjuncts that can assist with
classification of the VPD. Video nasendoscopy is essential for surgical candidates with velopharyngeal
incompetence to characterize the closure pattern of the velopharyngeal port. The surgical options for
persistent VPI after palate repair include Furlow conversion, posterior pharyngeal fat grafting (PPFG),
posterior pharyngeal flap (PPF), and dynamic sphincter pharyngoplasty (DSP).
A Furlow conversion can be performed for patients who underwent a straight-line closure or intravelar
veloplasty during their primary cleft palate operation. Converting to a Furlow palatoplasty will provide
additional palatal length at the expense of palatal width and can be applied to mild to moderate
velopharyngeal gaps. PPFG can also be utilized as an adjunctive procedure for modest (<2 cm2) gaps. The
volume of autologous fat required and regions for augmentation are determined from preoperative
nasendoscopy. Results with PPFG have demonstrated favorable outcomes with reduction in hypernasal
speech and improved velopharyngeal closure without significant increases in postoperative obstructive
sleep apnea. 45
The PPF is utilized in cases with large velopharyngeal gaps and often preferred if the lateral pharyngeal
wall motion is preserved. The technique makes two longitudinal incisions through the mucosa and
muscle of the posterior pharyngeal wall to the level of the prevertebral fascia. Elevation of PPF flaps has
been described with both superiorly and inferiorly based designs although the superiorly based flap is
most commonly practiced today. Following elevation, the flap apex is inserted into the posterior aspect of
the soft palate creating a midline subtotal obstruction of air flow with two lateral nasopharyngeal ports.
The elevated raw surface of the PPF can be relined with reflected nasal mucosal flaps off the posterior
palate to limit the degree of secondary flap contracture. The resultant posterior pharyngeal wall donor
site is closed primarily.
Patients exhibiting large velopharyngeal gaps are also candidates for DSP. The DSP technique elevates
superiorly based musculomucosal flaps from the posterior tonsillar pillars and include the underlying
palatopharyngeus muscle. Prior to flap elevation, a red rubber catheter is passed through the nose,
secured to the uvula, and then placed on tension to retract the soft palate and facilitate visualization. The
flaps are then raised to the height of the anticipated level of the velopharyngeal port just inferior to the
adenoid pad. The medial incisions for each flap are extended transversely to meet in the midline along
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the posterior pharyngeal wall. Each flap is transposed 90 degrees and inset sequentially into the
transverse pharyngeal wall incision. The result is a circular DSP port with a central opening. The
diameter of the DSP port is modulated by the degree of overlap and tension on the flaps during inset.
The use of PPF and DSP is largely center and surgeon dependent, with conflicting reports regarding the
effectiveness and safety profiles of each procedure. 46,47 However, a recent randomized multicenter trial
comparing PPF to DSP through standardization of technique demonstrated equivalent results between
PPF and DSP for speech resonance, nasalance, endoscopic outcomes, and surgical complications at 1-year
follow-up. 48 Postoperative obstructive sleep apnea was observed in both groups; therefore, pre- and
postoperative polysomnographic evaluation is warranted for patients requiring either procedure.
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Alveolar Cleft Closure
Methods for addressing the alveolar cleft include early primary bone grafting, gingivoperiosteoplasty
(GPP), and secondary bone grafting during mixed dentition. The rationale for early primary bone grafting
(<2 years old) is that bony reconstruction of maxillary arch will prevent collapse of the greater and lesser
segments, thereby diminishing the need for extensive orthodontic treatment and future orthognathic
surgery. Split rib corticocancellous grafts were typically used with a segment of cortex on-laid to the
labial cleft margin and morselized cortical and cancellous bone interposed into the alveolar cleft.
However, concern for disruption of maxillary growth with early primary bone grafting has caused this
approach to largely fall out of favor despite modifications to the technique.
Early intervention on the alveolar cleft can also be achieved with the use of GPP. Centers advocating the
use of GPP typically use it in conjunction with nasoalveolar molding to closely approximate the greater
and lesser alveolar segments. This allows for limited gingivoperiosteal flaps to be elevated off the cleft
margins and approximated to each other thereby forming a periosteum-lined tunnel through which
nascent bone formation can occur. GPP is typically performed at the time of the primary lip repair and
theoretically obviates the need for a secondary surgery and additional donor site morbidity. However,
GPP remains limited in implementation owing to the resource-intensive nature of NAM and questions
regarding the quantity and quality of bone formed through periosteal induction. Studies have
demonstrated that up to 40% of patients treated with GPP still require secondary bone grafting and
significantly higher failure rates of both primary and secondary GPP compared with secondary bone
grafting alone. 49,50
Secondary bone grafting is typically performed just prior to eruption of the permanent maxillary canine
into the cleft margin (8–9 years of age). Cancellous bone is harvested from the iliac crest and utilized to
definitively close the anterior oral-nasal fistula remaining after definitive lip and palate repair, augment
the cleft-side piriform rim, and restore continuity to the maxillary dental arch. Reported success rates for
secondary alveolar cleft bone grafting in the literature approach 80% to 90%. 50-52 However, the potential
for donor site morbidity, including remote scarring, infection, hematoma, meralgia paresthetica, and
iatrogenic fracture, has stimulated the investigation of allograft bone substitutes and osteogenic growth
factors in lieu of autologous bone. Preliminary reports of supplementing autologous iliac crest bone graft
with demineralized bone matrix and cancellous autograft 53 as well as the use of recombinant human
bone morphogenic protein-2 with demineralized bone matrix alone without autogenous bone have
shown favorable results. However, additional studies evaluating the long-term outcomes, complications,
cost-effectiveness, and safety of these novel therapies are required prior to widespread adoption.
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Orthognathic Surgery
Patients with CL/P require longitudinal care spanning infancy through early adulthood. Throughout this
time, they require multiple operations which carry additive potential for maxillary growth inhibition
through disruption of facial growth centers and postoperative scarring of the soft tissue envelope. When
combined with the congenital limitations in growth potential, CL/P patients often develop maxillary
hypoplasia and resultant Angle Class III malocclusion. Cleft patients can also exhibit transverse maxillary
hypoplasia with unilateral or bilateral collapse of the alveolar segments with resultant narrowing of the
maxillary arch. The mandibles in individuals with CL/P tend to have preserved growth potential further
compounding the Class III dentofacial relationship. This results in the mandible overriding of the
hypoplastic maxilla and autorotating into a pseudoprognathic position with loss of vertical facial height
and an undesirable edentulous appearance. Therefore, the typical orthognathic correction for cleft patients
is a LeFort I maxillary advancement with variable need for palatal osteotomies depending on the degree
of transverse maxillary deficiency.
The reported incidence of cleft patients requiring orthognathic surgery varies but has recently been
reported at 48% for unilateral clefts and 65% for bilateral clefts after a 30-year review at a single
institution. 54 In the noncleft population, the standard prerequisites for undertaking orthognathic surgery
include full eruption of the permanent dentition, completion of presurgical orthodontia to level and align
the dental arches, and completion of maxillomandibular growth. Serial cephalograms to evaluate
vertebral body morphology or wrist films documenting epiphyseal plate closure can aid in the
determination of a patient’s skeletal maturity. In the cleft population, the degree of dentofacial deformity
can be severe, leading to significant psychosocial or functional concerns that necessitate orthognathic
correction prior to achieving skeletal maturity. In these instances, distraction osteogenesis (DO) or a
finalizing osteotomy after completion of facial growth may be required. The indications for DO versus
conventional orthognathic surgery are also predicated on the degree of maxillary movement required to
reestablish normal maxillomandibular occlusion. The literature reports that DO is indicated for correction
of a negative overjet of greater than 6 mm in cleft patients and greater than 10 mm in noncleft patients. 55
The decision to proceed with DO versus conventional orthognathic surgery techniques remains at the
discretion of the treating cleft surgeon, as both methods have yielded reliable and stable postoperative
results. 56-58 Severe maxillary hypoplasia that presents early can often be rectified with early DO, with
overcorrection. Strategic distraction at a younger age in severe patients will often preclude any
compromises in the plan for orthognathic surgery at maturity resulting in the best aesthetic and functional
result. Cleft-specific considerations for orthognathic surgery include counseling patients on the
development of postoperative VPI following midface advancement. Patients with borderline preoperative
velopharyngeal function or who require large advancements (>10 mm) are at higher risk for this
complication, although patients may note improvements in articulation and speech intelligibility
secondary to improved maxillomandibular occlusion. Finally, the surgical plan for cleft orthognathic
cases should factor in a modest degree of overcorrection to account for surgical relapse owing to the
larger osteotomy gaps frequently necessitated for cleft cases and remodeling relapse due to the tension
from a restricted and scared soft tissue envelope.
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Questions
1. Failure of fusion of which of the following structures gives rise to a cleft lip?
a. Frontonasal prominence and lateral nasal prominence
b. Medial nasal prominence and maxillary prominence
c. Medial nasal prominence and lateral nasal prominence
d. Maxillary prominence and mandibular prominence
e. Lateral nasal prominence and frontonasal prominence
2. The parents of a 2-month-old infant with CL/P come to your office for consultation. This is the
parents’ second child; their first was also born with CL/P. They want to know what are the chances
that their next child will have CL/P.
a. 2%
b. 4%
c. 9%
d. 17%
e. 50%
3. A 5-year-old girl with a history of repaired unilateral complete CL/P presents to clinic for
evaluation. She has a persistent alveolar fistula but good alignment of her maxillary arch segments.
Alveolar cleft bone grafting is planned. Which of the following dictates timing for this intervention?
a. Patient age
b. Patient and family preference
c. Permanent canine eruption on periapical radiographs
d. Degree of compensatory misarticulations
e. Completion of maxillary growth
4. A 28-month-old female child is brought to clinic for evaluation of CL/P. She was adopted from
China where her lip was previously repaired. No additional operations have been performed.
Examination demonstrates a vermillion cutaneous step-off of 3 mm, inadequate vertical lip height,
and unfavorable scaring. Intraoral examination demonstrates complete unilateral cleft palate. Nasal
examination demonstrates persistent alar slumping and tip deviation to noncleft side. Which of the
following is the most appropriate next step in management?
a. Cleft palate repair
b. Minor lip revision with realignment of the white roll
c. Complete lip revision with reapproximation of orbicularis muscle and cutaneous lip elements
d. Complete cleft lip revision with concurrent cleft rhinoplasty
e. Observation
5. Which of the following muscles is utilized to construct the sphincter during DSP for treatment of
refractory velopharyngeal dysfunction?
a. Tensor veli palatini
b. Palatoglossus
c. Levator veli palatini
d. Palatopharyngeus
e. Superior pharyngeal constrictor
1. Answer: b. During the sixth to eighth weeks of gestation, the medial nasal prominence fuses with
the maxillary prominence to form the upper lip. The medial nasal prominence gives rise to the
philtrum, and the maxillary prominences become the lateral lip element with the philtral column
delineating the fusion plane. The frontonasal prominence is the precursor to the medial and lateral
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nasal prominences. The mandibular prominence does not contribute to the formation of the upper
lip.
2. Answer: c. The risks for having a child with CL/P are multifactorial. Familial cases have a risk that
is dependent on family history, parental involvement, and genetics. The risk of clefting in subsequent
children is as follows. If one child or one parent has CLP then there is a 4% chance of a subsequent
child being born with a cleft. If two children have CLP then there is a 9% chance of a subsequent
child being born with a cleft. If one child and one parent both have CLP then there is a 17% chance a
subsequent child being born with a cleft. For an affected parent with CL/P and lip pits who has van
der Woude syndrome, the risk for the affected child would be 50%, as van der Woude follows an
autosomal dominant inheritance pattern.
3. Answer: c. Timing of alveolar cleft bone grafting should precede eruption of the cleft side
permanent canine. This is best judged from periapical radiographs. Performing bone grafting at this
time will unite the maxillary arches and provide bone stock to support the erupting canine. Although
alveolar cleft bone grafting is typically performed around 8 or 9 years of age, the timing is dictated
by canine eruption, and therefore age cannot be utilized as a strict criterion. Persistent alveolar clefts
can contribute to hypernasal speech, but speech disturbance is not a primary indication for bone
grafting. Family and patient preference do not typically dictate the timing for alveolar cleft bone
grafting.
4. Answer: a. The patient described is already reaching the age of critical language development and
has an unrepaired cleft palate. An unrepaired cleft during this phase of development can lead to
severe speech dysfunction; therefore, performing cleft palate repair is the first objective. Despite an
unfavorable appearance to the previous cleft lip repair, revisionary surgery should be deferred until
after palatoplasty is performed. Observation is not indicated, as the child has already surpassed the
ideal age for performing palatoplasty.
5. Answer: d. In cleft patients, VPI can persist despite initial palatoplasty. Secondary interventions
for VPI include Furlow palatoplasty conversion, posterior PPFG, PPF, and DSP. To perform a DSP,
superiorly based musculomucosal flaps are elevated from the posterior tonsillar pillars including the
underlying palatopharyngeus muscle. These flaps are then transposed and overlapped in the midline
to create a circular velopharyngeal port.
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References
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Uzel, A, Alparslan, ZN. Long-term effects of presurgical infant orthopedics in patients with cleft lip and palate: a systematic review. Cleft
Palate Craniofac J. 2011;48:587-595.
Latham, RA. Orthopedic advancement of the cleft maxillary segment: a preliminary report. Cleft Palate J. 1980;17:227-233.
Berkowitz, S, Mejia, M, Bystrik, A. A comparison of the effects of the Latham-Millard procedure with those of a conservative treatment
approach for dental occlusion and facial aesthetics in unilateral and bilateral complete cleft lip and palate: part I. Dental occlusion. Plast
Reconstr Surg. 2004;113:1-18.
Thompson, JE. An artistic and mathematically accurate method of repairing the defect in cases of harelip. Surg Gynecol Obstet. 1912;14:498-
505.
LeMesurier, A. A method of cutting and suturing the lip in the treatment of complete unilateral clefts. Plast Reconstr Surg. 1949;4:1-12.
Tennison, CW. The repair of the unilateral cleft lip by the stencil method. Plast Reconstr Surg. 1952;9:115-120.
Randall, P. A triangular flap operation for the primary repair of unilateral clefts of the lip. Plast Reconstr Surg Transpl Bull. 1959;23:331-347.
Millard, DR Jr. A radical rotation in single harelip. Am J Surg. 1958;95:318-322.
Mohler, LR. Unilateral cleft lip repair. Plast Reconstr Surg. 1987;80:511-517.
Cutting, CB, Dayan, JH. Lip height and lip width after extended Mohler unilateral cleft lip repair. Plast Reconstr Surg. 2003;111:17-23.
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Sitzman, TJ, Girotto, JA, Marcus, JR. Current surgical practices in cleft care: unilateral cleft lip repair. Plast Reconstr Surg. 2008;121:261e-270e.
McComb, H. Primary repair of the bilateral cleft lip nose: a 15-year review and a new treatment plan. Plast Reconstr Surg. 1990;86:882-889.
Mulliken, JB. Correction of the bilateral cleft lip nasal deformity: evolution of a surgical concept. Cleft Palate Craniofac J. 1992;29:540-545.
Mulliken, JB. Primary repair of bilateral cleft lip and nasal deformity. Plast Reconstr Surg. 2001;108:181-194.The contributions to bilateral cleft lip
repair by Dr. Mulliken cannot be understated. His multiple manuscripts and technique descriptions have become the foundation of the modern bilateral
cleft lip repair. His entire series of manuscripts describing the creation and evolution of his technique are essential reading for any plastic surgeon.
LaRossa, D. The state of the art in cleft palate surgery. Cleft Palate Craniofac J. 2000;37:225-228.
Pigott, RW, Albery, EH, Hathorn, IS, et al. A comparison of three methods of repairing the hard palate. Cleft Palate Craniofac J. 2002;39:383-
391.
Furlow, L Jr. Cleft palate repair by double opposing Z-plasty. Plast Reconstr Surg. 1986;78:724-738.Dr. Furlow’s description of the double opposing
Z-plasty for soft palate repair is one of the seminal contributions to cleft care. His technique provided a novel and elegant technique to provide soft
palate closure with levator muscle repositioning with simultaneous lengthening of the palate.
McWilliams, BJ, Randall, P, LaRossa, D, et al. Speech characteristics associated with the Furlow palatoplasty as compared with other surgical
techniques. Plast Reconstr Surg. 1996;98:610-619.
Levi, B, Kasten, SJ, Buchman, SR. Utilization of the buccal fat pad flap for congenital cleft palate repair. Plast Reconstr Surg. 2009;123:1018-
1021.
Lau, D, Oppenheimer, AJ, Buchman, SR, et al. Posterior pharyngeal fat grafting for velopharyngeal insufficiency. Cleft Palate Craniofac J.
2013;50:51-58.
Sloan, GM. Posterior pharyngeal flap and sphincter pharyngoplasty: the state of the art. Cleft Palate Craniofac J. 2000;37:112-122.
de Serres, LM, Deleyiannis, FW, Eblen, LE, et al. Results with sphincter pharyngoplasty and pharyngeal flap. Int J Pediatr Otorhinolaryngol.
1999;48:17-25.
Abyholm, F, D’Antonio, L, Davidson Ward, SL, et al. Pharyngeal flap and sphincterplasty for velopharyngeal insufficiency have equal
outcome at 1 year postoperatively: results of a randomized trial. Cleft Palate Craniofac J. 2005;42:501-511.
Santiago, PE, Grayson, BH, Cutting, CB, et al. Reduced need for alveolar bone grafting by presurgical orthopedics and primary
gingivoperiosteoplasty. Cleft Palate Craniofac J. 1998;35:77-80.
Matic, DB, Power, SM. Evaluating the success of gingivoperiosteoplasty versus secondary bone grafting in patients with unilateral clefts.
Plast Reconstr Surg. 2008;121:1343-1353.
Dempf, R, Teltzrow, T, Kramer, FJ, Hausamen, JE. Alveolar bone grafting in patients with complete clefts: a comparative study between
secondary and tertiary bone grafting. Cleft Palate Craniofac J. 2002;39:18-25.
Kortebein, MJ, Nelson, CL, Sadove, AM. Retrospective analysis of 135 secondary alveolar cleft grafts using iliac or calvarial bone. J Oral
Maxillofac Surg. 1991;49:493-498.
Macisaac, ZM, Rottgers, SA, Davit, AJ III, et al. Alveolar reconstruction in cleft patients: decreased morbidity and improved outcomes with
supplemental demineralized bone matrix and cancellous allograft. Plast Reconstr Surg. 2012;130:625-632.
Daskalogiannakis, J, Mehta, M. The need for orthognathic surgery in patients with repaired complete unilateral and complete bilateral cleft
lip and palate. Cleft Palate Craniofac J. 2009;46:498-502.
Cheung, LK, Chua, HD, Hagg, MB. Cleft maxillary distraction versus orthognathic surgery: clinical morbidities and surgical relapse. Plast
Reconstr Surg. 2006;118:996-1008.
Posnick, JC, Tompson, B. Cleft-orthognathic surgery: complications and long-term results. Plast Reconstr Surg. 1995;96:255-266.Adjunctive cleft
operations including orthognathic surgery are required for a subset of cleft lip and palate patients once they reach skeletal maturity. Dr. Posnick’s
manuscript reports on his a longitudinal experience treating the secondary dentofacial deformity associated with cleft lip and palate with LeFort I with
or without mandibular osteotomies. His series demonstrates favorable outcomes with low rates of relapse on long-term follow-up and low rate of
perioperative and postoperative complications.
Scolozzi, P. Distraction osteogenesis in the management of severe maxillary hypoplasia in cleft lip and palate patients. J Craniofac Surg.
2008;19:1199-1214.
Gursoy, S, Hukki, J, Hurmerinta, K. Five-year follow-up of maxillary distraction osteogenesis on the dentofacial structures of children with
cleft lip and palate. J Oral Maxillofac Surg. 2010;68:744-750.
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C H A P T E R 2 6
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Congenital Melanocytic Nevi and Other Common
Skin Lesions
David W. Low and Oksana A. Jackson
Key Points
Congenital nevi may be classified by depth of involvement (epidermal, junctional, dermal,
compound), predominant type of cells (melanocytic, sebaceous), cellular atypia (mild, moderate,
severe, dysplastic, Spitz), size (small, medium, giant), and in certain cases, location (nevus of Ota on
the face, nevus of Ito on the shoulder, Mongolian spots on the buttocks).
The malignant potential of melanocytic nevi depends largely upon size, but a family history of
dysplastic nevi and melanoma significantly increases the potential for malignant melanoma.
Although the ABCDs of pigmented lesions may be useful indicators of suspicious moles (asymmetry,
border irregularity, color variegation, diameter >6 mm), the most important feature is E (evolving)—
a nevus that is changing.
Small and medium-sized melanocytic nevi have a lifetime risk of melanoma of less than 1%. Giant
congenital nevi may have a lifetime risk of 5% to 10%.
The surgical management of congenital melanocytic nevi may include incisional biopsy, excisional
biopsy, serial excision, excision and skin grafting, and tissue expansion prior to excision of large or
giant nevi. The role of lasers may be useful for epidermal nevi, but it remains controversial for
melanocytic nevi.
Sebaceous nevi often become oily and crusty during puberty, and they have a 10% to 15% risk of
basal cell carcinoma in adulthood. Surgical excision is usually straightforward on the scalp, but on
the face, significant scars can result.
Other common pediatric skin lesions include epidermal cysts, pilomatrixomas, and dermoid cysts.
Surgical excision is recommended and is usually curative.
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Layers of the Skin
The skin is divided into the epidermis and the dermis, and in most areas of the body, the next deepest
layer is subcutaneous tissue. (Eyelid skin is directly attached to the orbicularis muscle.) The epidermis can
be microscopically subdivided into five layers (from superficial to deep: corneum, lucidum, granulosum,
spinosum, and germinativum), but what is important to plastic surgeons is that malignant tumors
confined to the epidermis are regarded as premalignant in situ carcinomas, rather than invasive skin
cancers. The dermis is divided into two clinically important layers, the papillary and reticular dermis. The
papillary dermis interdigitates with the epidermis and lies above the reticular dermis. This distinction is
clinically important in classifying the depth of invasion of melanomas, but it is also important in skin
resurfacing as ablative techniques that penetrate into the reticular dermis can cause undesirable scar
formation.
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Nevi
Congenital Melanocytic
Classification
Congenital nevi are classified by a variety of features, including layer(s) of skin involvement, size, and
location on the body. Epidermal nevi have no malignant potential but become increasingly verrucous
over time, posing significant cosmetic concerns. Similarly, dermal nevi have low malignant potential but
typically protrude above the surface of the skin as flesh-colored papules. Acquired nevi are often located
at the junction of the epidermis and dermis, so they are called junctional nevi. Nevi that are located in
both layers are compound nevi. Nevi that are characterized as having congenital features follow hair
follicles through the dermis and into the superficial subcutaneous tissues (Figure 26.1).
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FIGURE 26.1 A. Classification of nevi based on location. Nevi can be located in the epidermis, the dermis, both layers
(compound), at the interface (junctional), or may extend down the hair follicle into the fat (nevus with congenital features). B.
Photomicrograph of a congenital nevus. The nevus cells extend into the mid or deep reticular dermis. The cells typically
surround or extend into hair follicles, sebaceous glands, and eccrine ducts.
(Courtesy of Rosalie Elenitsas, MD.)
Congenital nevi are also classified by their size as small, medium, and giant. This rather imprecise
method groups them into nevi that are less than 1.5 cm, 1.5 to 20 cm, and greater than 20 cm. Small nevi
are the most common, occurring in 1:100 births. Medium nevi occur in 1:1000 births. Giant nevi are the
least frequent at 1:20,000 births and often have associated satellite nevi. Giant nevi may occupy an entire
back, buttock, or thigh. A large part of the face and scalp may be classified as a giant hairy nevus, even if
the exact measurement is less than 20 cm. Nevi greater than 50 cm in dimension are very rare, occurring
in 1:500,000 births.
Some congenital nevi are classified by location. Nevus of Ota is a dermal melanocytic nevus located on
the face (V1 and V2 distribution), which occurs more commonly in women, rarely in Caucasians, and
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may be associated with glaucoma (Figure 26.2). Similarly, nevus of Ito is characterized by dermal
melanocytosis, except that its location is on the shoulder, upper chest, and back. It is also most commonly
seen in Asians. Mongolian spots are found on the lumbosacral area and are characterized by dermal
melanocytic pigmentation, but curiously disappear in most patients by 3 to 5 years of age and in the
remainder by puberty. They are sometimes misdiagnosed as child abuse because the pigment can be
mistaken for a bruise (Figure 26.3).
FIGURE 26.2 Nevus of Ota. This dermal melanocytic nevus is located in the V1 and V2 distribution of the face and can be
associated with glaucoma.
(Courtesy of Albert Yan, MD.)
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FIGURE 26.3 Mongolian spots. The dermal melanocytic pigmentation of the buttocks resolves with time but can be mistaken
for bruising associated with child abuse.
Congenital nevi are most accurately classified by their microscopic appearance, and the pathology report
may include terms such as epidermal nevus, nevus with congenital features, Spitz nevus, sebaceous
nevus, cellular blue nevus, halo nevus, and dysplastic nevus with varying degrees of cellular atypia. As
noted earlier, epidermal nevi are confined to the most superficial skin layer, whereas congenital nevi have
melanocytic pigment throughout all layers of the skin. Spitz nevi resemble melanomas but do not carry
the same oncologic risk. Sebaceous nevi are composed of sebaceous units. Cellular blue nevi have densely
packed melanocytes. Halo nevi show loss of melanin (probably an autoimmune phenomenon) and
clinically have a peripheral zone of hypopigmentation. Dysplastic nevi demonstrate variable degrees of
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cellular atypia (mild, moderate, severe) with increased risk of neoplastic transformation.
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Spitz Nevi
In 1948, an American pathologist, Sophie Spitz, described 12 pediatric patients whose nevi resembled
melanoma microscopically but did not carry the same biologic risk. She coined the term juvenile melanoma
to distinguish them from malignant melanoma. They occur most commonly on the face and neck between
the ages of 3 and 13, are usually less than 1 cm in diameter, and have a well-circumscribed border (Figure
26.4). However, because they may exhibit rapid growth, they are commonly tangentially biopsied by
pediatric dermatologists and then referred to plastic surgeons for full-thickness excision. Although the
potential for malignant transformation is no greater than other small melanocytic nevi, the resemblance to
melanoma gives Spitz nevi an undeserved ominous reputation. Excision with a small margin of normal
skin is sufficient.
FIGURE 26.4 A. Spitz nevi can exhibit rapid growth, and their nickname juvenile melanoma is intimidating, but they are
actually no more dangerous than other congenital nevi. B. These lesions are composed of nests of large epithelioid
melanocytes that have an abundance of pink cytoplasm. The cells are often present in both the epidermis and dermis and show
many overlapping features with melanoma cells.
(Courtesy of Rosalie Elenitsas, MD.)
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Halo Nevi
A nevus with a surrounding zone of hypopigmented skin occurs most commonly in late adolescence and
is believed to represent autoimmune destruction of melanocytes. The central nevus may disappear over
the course of months or years, and it is not uncommon for the pigment to return. This is generally a
benign process, but biopsy is indicated if the central nevus appears atypical. The most common location
is on the trunk, especially the back, and patients may have more than one such lesion (Figure 26.5).

FIGURE 26.5 Halo nevi have a zone of hypopigmentation surrounding the central nevus. Although the process is thought to be
a benign autoimmune phenomenon, the presence of a changing nevus usually warrants a confirmatory biopsy for parents’
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peace of mind.
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Dysplastic Nevi and Dysplastic Nevus Syndrome
Dysplastic nevi are clinically suspected when patients have asymmetric moles with irregular borders and
variegation in pigmentation (Figure 26.6). Patients may have >50 dysplastic moles and a family history of
dysplastic nevi. Wallace Clark first described dysplastic nevus syndrome while at Penn, and noted that
patients with many dysplastic nevi and two or more first-degree relatives with melanoma have perhaps a
lifetime risk of melanoma approaching 100%. Clark is best known for describing the depth of invasion of
a melanoma (Clark levels I–V), the deeper the level, the worse the prognosis (Figure 26.7). In most
patients, Clark level correlates with the tumor thickness, measured in millimeters (Breslow classification).
Tumor thickness, however, is the most important prognostic indicator. A full-thickness biopsy is
indicated for any suspicious lesion. Patients with large numbers of dysplastic nevi are best followed with
full body photographs to help determine which nevi are truly changing and deserve biopsy.
FIGURE 26.6 A. Dysplastic nevi have irregular fuzzy borders and variegation in pigmentation. A family history of melanoma
and many dysplastic nevi warrants close dermatologic surveillance, usually with full body photographs to determine which nevi
are changing and require biopsy. B. Dysplastic nevus with severe atypia. In the epidermal component of this dysplastic nevus,
there is high cellularity and focal pagetoid growth of nevomelanocytes.
(Courtesy of Rosalie Elenitsas, MD.)
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FIGURE 26.7 Malignant melanoma characteristically shows pagetoid growth of melanocytes in the epidermis. This term refers
to the proliferation of these atypical melanocytic cells at all layers of the epidermis. Invasive melanoma is demonstrated by the
presence of the atypical cells in the dermis (lower right-hand corner of photomicrograph).
(Courtesy of Rosalie Elenitsas, MD.)
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Surgical Management of Melanocytic Nevi
The malignant potential for most melanocytic nevi is less than 1% over a lifetime; therefore guidelines
have been established to alert the patient and the clinician to suspicious nevi warranting biopsy. The
ABCDEs of suspicious nevi include asymmetry, irregular border, variegation in color, diameter larger
than a pencil eraser (>6 mm, probably the least important feature), and most importantly a changing
nevus (evolution). Changing features may also include crusting, bleeding, and itching.
A full-thickness biopsy rather than a shave biopsy is indicated to include all skin layers and subcutaneous
tissue, and it may include a punch biopsy, an incisional biopsy, or an excisional biopsy. If a melanoma is
diagnosed, a wide local excision is indicated down to the muscle fascia, and the thickness and depth of
the melanoma, mitosis per square mm, presence of tumor infiltrating lymphocytes, presence or absence of
regression, and other features such as tumor ulceration, tumor satellitosis, and neurotropism may dictate
the need for sentinel lymph node staging, node dissection, metastatic screening, and periodic follow-up.
Small benign nevi can be excised in their entirety during initial biopsy. Large nevi may be managed with
serial excision (Figure 26.8), excision and skin grafting, or tissue expansion of adjacent skin for large or
giant congenital nevi (Figure 26.9). The role of lasers for congenital nevi has remained controversial over
the past three decades. Lasers that target melanin can destroy melanocytes, but one can never guarantee
complete removal of the nevus. Therefore, concerns that melanoma transformation may still occur and
the lack of pigment may delay the diagnosis of melanoma that discourages most clinicians from offering
laser as an option. However, in cosmetically challenging areas such as the eyelid where surgical options
for nevi usually result in poor results, laser may provide a reasonable option where the cosmetic benefit
outweighs the very small risk of melanoma transformation.
FIGURE 26.8 A. Nevi that are too large to be excised in a single stage and too small to warrant tissue expansion can be
approached by serial excision. B. Fortunately, this nevus allowed the surgical scar to be hidden in the nasolabial crease after a
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series of 3 excisions.
FIGURE 26.9 Giant congenital nevi can either be followed conservatively or excised with the help of tissue expansion. Parents
should be advised that multiple cycles of expander insertion/removal and skin advancement may be necessary to serially
excise these nevi, obligating the patient and family to endure considerable pain and morbidity. A. Expander placed under
normal skin below the nevus. B. Same patient 4 years later after serial expansion and nevus excision.
Neurocutaneous melanosis is a rare condition thought to arise from abnormal development of the
neuroectoderm that results in melanotic tissue in both the skin and meninges. It can be associated with
large (>20 cm) congenital nevi, or with multiple nevi in association with meningeal melanosis or
melanoma. A screening MRI can be done at 4 to 6 months, but the prognosis is poor, even in the absence
of meningeal melanoma, as patients may exhibit hydrocephalus, seizures, developmental delay, cranial
nerve palsies, and a tethered spinal cord.
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Epidermal Nevi
Epidermal nevi have no malignant potential, but they may carry significant psychologic burden as they
typically become increasingly verrucous and unsightly over time (Figure 26.10). The skin lesions may
resemble warts, and in some cases, there are associated ocular, neurologic, skeletal, and endocrine
abnormalities. Cataracts, colobomas, seizures, developmental delay, hemiparesis, scoliosis, growth
abnormalities of the extremities, and vitamin D–resistant rickets have been described. When these
extracutaneous associated findings are present, the term epidermal nevus syndrome may be applied, but
fortunately the vast majority of patients have random occurrence of epidermal nevi with no other
symptoms.
FIGURE 26.10 An epidermal nevus is benign, but the texture of the skin often becomes increasingly verrucous and unsightly.
Removal by shave excision, dermabrasion, and laser vaporization may provide adequate palliation. Full-thickness excision is
curative for small or linear lesions at the expense of a permanent surgical scar.
Treatment includes tangential shave excision (scalpel or iris scissors), dermabrasion, CO2 laser
vaporization (Figure 26.11), or surgical excision. Partial-thickness removal appears to be more effective if
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it is performed before the nevus becomes verrucous as the cleavage plane between the epidermis and
dermis appears to separate more uniformly. However, despite being in an epidermal plane, some degree
of nevus recurrence is common, and repeat treatments may be indicated. In cases where the shape of the
nevus lends itself to complete full-thickness excision, permanent removal is possible at the expense of a
surgical scar.
FIGURE 26.11 Epidermal nevi can be vaporized with a CO2 laser if a large surface area is involved. Laser may be more
precise, less bloody, and less likely to catch regional hairs compared with sharp dissection or dermabrasion. It works best if
done while the nevus is relatively flat, as the nevus separates at a nice dermal cleavage plane.
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Sebaceous Nevi (Nevus Sebaceous of Jadassohn)
Described in 1885 by German dermatologist Josef Jadassohn, these congenital nevi have a fleshy, tan, and
cobblestone appearance and are often located on the scalp and face (Figure 26.12). Unlike congenital
melanocytic nevi, they have prominent sebaceous glands, and when located on the scalp they are non–
hair bearing. During puberty they commonly become oily and crusty, presenting a cosmetic nuisance.
More significantly, they have a 10% to 15% risk of basal cell skin cancer in adulthood. For these reasons,
the treatment of choice for scalp sebaceous nevi is surgical excision. Evaluation of the surgical margins
can be difficult for pathologists, but wide excision is overly aggressive and unnecessary. When these nevi
occur on the face, conservative observation, tangential shave excision, and CO2 laser vaporization may be
chosen to avoid an obvious surgical scar, as long as parents understand the risk of basal cell skin cancer
will not be removed.
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FIGURE 26.12 A sebaceous nevus has a cobblestone texture that worsens during puberty. There is a 10% to 15% risk of
basal cell carcinoma in adulthood. Most parents will opt for removal and accept a surgical scar prior to the patient’s teenage
years.
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Cysts
Epidermal Cysts
Epidermal cysts will forever be inaccurately called sebaceous cysts, owing to the assumption that they are
filled with sebum because of a blocked pore. In fact, they are actually lined by epidermis and filled with
desquamated epidermal cells and fatty acids, which give them a cheesy texture and odor. Complete
excision of the capsule with a small amount of adherent overlying skin is necessary to minimize the risk
of recurrence. Some surgeons will intentionally evacuate the contents of a large cyst and allow the
capsule to contract, resulting in a smaller scar when the residual cyst is excised at a later date. If they
become secondarily infected, they become inflamed and painful, and also contain purulent drainage
under pressure. In this setting, incision and drainage is usually palliative rather than curative, and
patients return after the inflammation subsides for definitive excision. Unruptured and noninflamed cysts
usually shell out easily from the surrounding subcutaneous tissue (Figure 26.13), whereas previously
inflamed or recurrent cysts often have dense adhesions to the surrounding fat.
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FIGURE 26.13 An epidermal inclusion cyst is adherent to the overlying dermis and can sometimes be confused with a
superficial lipoma. Excision of the entire capsule is necessary to minimize the risk of recurrence.
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Pilomatrixomas (Calcifying Epithelioma of Malherbe)
French physician Albert Malherbe described a benign tumor of hair cell origin (pilo = hair) that clinically
appears similar to an epidermal cyst, but with a rock-hard texture. They are usually adherent to the
overlying skin, and sometimes may be mistaken for a vascular malformation as the overlying skin may
contain a bluish hue and small telangiectasias, which resolve after excision. The capsule is thin and
fragile, and clusters of calcified granules are easily visualized through it. Complete excision with a small
amount of adherent overlying skin is curative (Figure 26.14).

FIGURE 26.14 Pilomatrixoma (calcifying epithelioma of Malherbe). Unlike an epidermal cyst, a pilomatrixoma contains hard
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calcified granules. The overlying skin may have telangiectasias or a bluish pigmentation, mimicking a vascular lesion. The
pigmentation resolves once the pilomatrixoma is excised.
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Dermoid Cysts
Dermoid cysts can occur anywhere along sites of embryologic fusion, but in the head, they can commonly
occur in the periorbital, glabellar, and nasal regions as well as the scalp and temporal region. They
contain dermis, epidermis, sebaceous glands, and hair and exhibit slow growth. Intracranial extension
can occur with midline nasal, glabellar, and temporal dermoids; therefore, dermoids in these locations are
best worked up with MRI or CT scans. Collaboration with neurosurgery may be required for complete
cyst removal in these cases. Lateral brow dermoids are best approached through lateral supratarsal fold
incisions that leave an imperceptible scar rather than through the eyebrow (Figure 26.15). They are
commonly adherent to the periosteum and may even cause bony indentations that resolve after cyst
removal.
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FIGURE 26.15 A dermoid cyst in the periorbital area is usually adherent to the underlying periosteum. Lateral brow dermoids
are best approached through a lateral upper eyelid incision, which leaves an imperceptible scar.
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Acknowledgments
The authors are indebted to the contributions of Albert Yan, MD, Professor of Pediatrics and
Dermatology, and Rosalie Elenitsas, MD, Herman Beerman Professor of Dermatology, Perelman School
of Medicine at the University of Pennsylvania.
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Questions
1. Sebaceous nevi (nevus sebaceous of Jadassohn) may demonstrate all of the following except:
a. Lack of hair growth when located on the scalp
b. Crusting and oily discharge during puberty
c. 10% to 15% risk of basal cell carcinoma in adulthood
d. 10% to 15% risk of squamous cell carcinoma in adulthood
e. Difficult margins for the pathologist to interpret
2. Appropriate treatment of congenital melanocytic nevi may include all of the following except:
a. Photographic documentation and periodic physical examination
b. Punch biopsy or incisional biopsy
c. Tangential shave biopsy
d. Excisional biopsy
e. Serial excision
3. The ABCDEs of suspicious nevi include all of the following except:
a. Asymmetry
b. Border irregular
c. Color variegation
d. Diameter >1 cm
e. Evolution
1. The following lesions are benign without malignant potential except:
a. Spitz nevus
b. Pilomatrixoma
c. Sebaceous nevus
d. Nevus of Ota
e. Nevus of Ito
5. Which of the following statement is not true?
a. Dermoid cysts are present at birth.
b. Dermoid cysts can contain hair in addition to dermis, epidermis, and sebaceous glands.
c. Intracranial extension can occur with temporal dermoid cysts.
d. Intracranial extension does not occur with lateral brow dermoid cysts.
e. Dermoid cysts in the periorbital region may be adherent to the periosteum and cause bony
indentations.
1. Answer: d. Parents will usually elect surgical excision when sebaceous nevi are located in their
child’s scalp because they are typically non–hair bearing and will develop oily crusts because of
hormonal stimulation of the sebaceous glands during puberty, and because of the malignant
potential (basal cell, not squamous cell carcinoma). Pathologists note that complete excision can be
difficult to confirm because the margins can be challenging to interpret since normal skin contains
sebaceous glands.
2. Answer: c. Photodocumentation of a congenital nevus allows the clinician to determine whether it
is changing, and an evolving nevus warrants a biopsy. This is particularly useful when patients have
many dysplastic nevi and excision of all of them is impossible or impractical. Periodic follow-up
every 6 to 12 months with good-quality photographs is an appropriate way to monitor patients. A
full-thickness biopsy is appropriate because it will allow one to determine tumor thickness and the
level of invasion in the event of a melanoma. A shave biopsy can establish the diagnosis of
melanoma, but it may make it impossible to ever know the true tumor thickness of a melanoma, and
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therefore removes the most import prognostic indicator (Breslow tumor thickness in millimeters). A
punch or incisional biopsy of the thickest part of the nevus should include subcutaneous fat. An
excisional biopsy or a serially excised nevus should also include superficial subcutaneous tissue.
3. Answer: d. Nevus size that should raise concern and prompt closer evaluation is >6 mm or about
the size of a pencil eraser. Size, however, is probably the least important feature. The most important
feature to note by history or repeated examination is changes in the appearance or evolution of the
nevus over time. Other concerning symptoms may include crusting, bleeding, and itching.
4. Answer: c. Sebaceous nevi have a 10% to 15% risk of basal cell skin cancer in adulthood. Spitz nevi
resemble melanoma histologically; however, their potential for malignant transformation is no
greater than other small melanocytic nevi. Pilomatrixomas are benign tumors of hair cell origin that
are adherent to the overlying skin and have a rock-hard texture due to the presence of calcified
granules. Nevus of Ota is a dermal melanocytic nevus located on the face (V1 and V2 distribution).
Nevus of Ito is characterized by dermal melanocytosis and location on the shoulder, upper chest, and
back.
5. Answer: d. Dermoid cysts develop during pregnancy and can occur anywhere along sites of
embryologic fusion. They contain dermis, epidermis, sebaceous glands, and hair and exhibit slow
growth. Intracranial extension can occur with midline nasal, glabellar, and temporal dermoids;
therefore, dermoids in these locations are best worked up with MRI or CT scans. Lateral brow
dermoids are commonly adherent to the periosteum and may even cause bony indentations that
resolve after cyst removal.
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BIBLIOGRAPHY
Arad, E, Zuker, RM. The shifting paradigm in the management of giant congenital melanocytic nevi: review and clinical applications. Plast
Reconstr Surg. 2014;133(2):367-376.An updated review is presented of controversial topics in the management of congenital melanocytic nevi, and
clinical applications are demonstrated through clinical cases.
Chung, C, Forte, AJ, Narayan, D, Persing, J. Giant nevi: a review. J Craniofac Surg. 2006;17(6):1210-1215.A comprehensive review article describing
the incidence, histology, and management of giant melanocytic nevus.
Ferguson, RE Jr, Vasconez, HC. Laser treatment of congenital nevi. J Craniofac Surg. 2005;16(5):908-914.Review of laser terminology is presented
along with a review of nevus of Ota, nevus of Ito, and congenital melanocytic nevi.
Gosain, AK, Santoro, TD, Larson, DL, Gingrass, RP. Giant congenital nevi: a 20-year experience and an algorithm for their management. Plast
Reconstr Surg. 2001;108(3):622-636.A retrospective review of 61 patients with giant congenital nevi is presented including the surgical treatments
used. An algorithm for management is presented by the authors based on their experience over time.
Schaffer, JV. Update on melanocytic nevi in children. Clin Dermatol. 2015;33(3):368-386.This review article summarizes the natural history and
clinical spectrum of nevi in pediatric patients, and provides an update in their dynamic evolution over time, molecular insights into nevogenesis, and
phenotypic markers for increased risk of melanoma.
Schaffer, JV, Bolognia, JL. The clinical spectrum of pigmented lesions. Clin Plast Surg. 2000:27(3):391-408.Review article presenting the clinical
features of a spectrum of pigmented lesions, including congenital, Spitz, and blue nevi, as well as each subtype of cutaneous melanoma.
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C H A P T E R 2 7
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Vascular Anomalies
Kavitha Ranganathan and Steven J. Kasten
Key Points
Vascular malformations fall into two broad categories: neoplastic and nonneoplastic.
Vascular malformations are present at birth and grow concurrently with the patient, whereas
hemangiomas present postnatally and commonly involute by adolescence.
First-line pharmacologic treatments for hemangiomas include beta blockers, systemic steroids, and
intralesional steroids.
Vascular malformations are characterized based on whether they are slow or fast flow; lesions with
an arterial component are fast flow, whereas all other lesions including venous, capillary, and
lymphatic malformations are slow flow.
Treatment for malformations is by multiple modalities depending on classification and anatomic
location.
Sclerotherapy is one potential intervention for venous and lymphatic malformations.
Asymptomatic vascular malformations can be observed, but it is important to rule out other
comorbid conditions and syndromes first.
It is critical to remember that vascular anomalies can present as part of a syndrome; recognizing the
associated symptoms and pathology is of utmost importance.
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Historical Perspective
In the 1800s, Virchow developed one of the first methods of characterizing vascular anomalies. 1,2
Subsequently, in 1996, the International Society for the Study of Vascular Anomalies (ISSVA) stratified
these vascular anomalies into two main types: vascular malformations and vascular tumors. This work
was heavily influenced by the work of Mulliken and Glowacki, whose initial research defined these types
of lesions according to vessel composition, namely by whether the vessel is a capillary, venous,
lymphatic, arterial, or combined malformation. 3 These guidelines were subsequently updated in 2014
and represent the most recent consensus on the definitions and clinical manifestations of vascular
malformations and tumors.
Accurate diagnosis of vascular anomalies and tumors relies on obtaining a thorough history and physical
examination, with timing of onset of the condition being one of the most critical considerations. Imaging
is useful when determining the extent of the lesion as well as the amount of flow, particularly for vascular
malformations. Slow-flow lesions include capillary, venous, and lymphatic malformations, whereas fast-
flow lesions include any malformation with an arterial component. Historically, one of the most difficult
aspects of caring for patients with such congenital anomalies has been the use of inconsistent
terminology. 3 As the treatment and time course are quite different between vascular malformations and
tumors, these variations in terminologies have affected progress within the field and have led to
inconsistencies in treatment. The goal of the current chapter is to educate the reader on how to properly
diagnose and differentiate vascular malformations from vascular tumors including hemangiomas, and
manage these lesions based on the initial presentation of the patient as well as over time.
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Vascular Tumors
Infantile Hemangiomas
Epidemiology and Clinical Course
Hemangiomas are the most common tumor of infancy and occur at a rate of 11 in 10 infants. These lesions
are not present at birth and are commonly visualized at approximately 2 weeks after birth. These tumors
are more common in females (3:1) and Caucasians (1 in 10) with the most common location occurring in
the head and neck region. 4,5 Diagnosis is largely clinical, when the diagnosis is in question based on
history and physical examination. Hemangiomas are distinguished from vascular malformations by the
timing of onset occurring after birth; conversely, vascular malformations are always present at birth.
These benign vascular proliferations of endothelial cells go through three main phases during
development: proliferation (0 to 12 months), involution (12 months to 10 years), and finally, regression
(after 10 years). 4,5 Consideration for early intervention is critical for patients presenting with functional
deficits associated with the presence of the anomaly. For example, early surgical or medical resection
should be considered among patients presenting with hemangiomas that result in amblyopia, distortion
of critical anatomic structures, ulceration and bleeding complications, or airway compromise. As infantile
hemangiomas can present as part of a defined syndrome, patients may need to be evaluated for
additional anomalies based on their clinical presentation (Table 27.1). Infantile hemangiomas are positive
for glucose transporter 1 (GLUT-1) on biopsy of the lesion as well as within the urine.
TABLE 27.1
Syndromes/Anomalies Associated With Hemangiomas
Syndrome
Characteristic Features
Kasabach-Merritt
syndrome
Thrombocytopenia (<10,000), hemangiomas
PHACES
Posterior fossa anomalies, hemangiomas, arterial anomalies, cardiac anomalies, eye/ear anomalies, sternal cleft,
and supraumbilical raphe syndrome
Maffucci syndrome
Numerous enchondromas, hemangiomas
Von Hippel-Lindau
disease
Retinal hemangiomas, cerebellar hemangioblastomas, visceral cysts and hemangiomas, developmental delay
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Pathophysiology
Hemangiomas are thought to occur as a result of clonal mutations in hematopoietic endothelial stem cell
populations that express mesenchymal stem cell markers. 6 Growth can be stimulated by hypoxic
conditions within these stem cell populations and/or abnormal responses from vasculogenic endothelial
growth factor receptor function. 6-12 Although the exact pathway responsible for hemangioma involution
remains unclear, it is thought to occur via decreased endothelial cell proliferation and increased cell
death. Hormonal alterations over time can also affect this process.
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Imaging
As history and physical examination are the most important diagnostic tools for the proper diagnosis and
evaluation of patients presenting with hemangiomas, imaging is not commonly required. In fact, imaging
may further complicate the diagnosis given that these are not the only lesions that demonstrate fast flow
on ultrasound; any lesion with an arterial component, particularly arteriovenous malformations (AVMs),
will demonstrate fast flow. Additional ultrasound findings include a shunting pattern of flow. MRI is an
alternative imaging strategy; proliferating hemangiomas are isointense on T1 view and hyperintense on
T2 view, with confluent enhancement and flow voids with contrast. As the hemangioma begins to
involute, imaging may demonstrate an increase in fat content of the lesion. Given that most hemangiomas
are treated nonoperatively, imaging is not commonly required and must be approached with caution
particularly in pediatric populations.
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