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

less effective than steroids, the utilization of one pharmacologic agent over another may be tailored to the
resources available at an individual institution. Beta blockers, most commonly propranolol, are
administered at a dose of 2 mg/kg/d and are most effective when initiated during the proliferative phase
of hemangioma growth. At many institutions, patients are admitted to the hospital for observation, while
the first dose of the beta blocker is administered to monitor for hypoglycemia and hypotension. Patients
must also pass a thorough cardiopulmonary evaluation prior to drug initiation, given the potential for
serious adverse effects. Topical beta blockers such as timolol are also effective. 21-28
Interferon alpha-2A is considered a second-line treatment for patients who are not responding to
corticosteroid therapy or who are unable to tolerate beta blockade. At a subcutaneous dose of 2 to
3 mU/m2, a response is usually seen within 6 to 10 months. 29 Although the most serious side effect to
monitor is spastic diplegia, fevers, transaminitis, neutropenia, and anemia are other potential
complications. This treatment is thought to be particularly effective for patients with Kasabach-Merritt
syndrome.
Another second-line agent for the treatment of infantile hemangiomas is vincristine. 22,23 As this is a
chemotherapeutic agent, side effects include peripheral neuropathy, infections, and hair loss. Although
the response rate is thought to approach over 80%, patients are required to have a central line for
administration. Thus, this agent is not commonly used in lieu of other less hazardous pharmacologic
treatment strategies. 30,31
Surgical management is required for hemangiomas that cause functionally disruptive symptoms as
described (Figure 27.2). 32-34 Excision can be performed in a single-stage fashion for smaller lesions or in a
staged fashion for larger lesions; management is dependent on the location and size of the lesion. Because
there is no future neoplastic potential, it should be kept in mind that complete excision of the
hemangioma in one stage is not required, and partial excision may facilitate reconstruction. Historically,
circular excision with purse-string closure is one potential technique for excision to decrease the
dimensions of the scar. For larger lesions, concomitant tissue expansion may be required to facilitate soft-
tissue coverage. Although previous reports of the use of tissue expanders in the back and extremities
have high complication rates particularly due to infection and extrusion, it is our experience that tissue
expansion remains an excellent option for vascular anomalies in these locations in pediatric patient
populations. Regardless of the technique used, surgeons must approach excision with utmost caution, as
these lesions may remain highly vascular even in the resolution phase and can result in significant blood
loss intraoperatively. For this reason, preoperative embolization may be required.
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FIGURE 27.2 Hemangiomas of the lip can also cause significant deformity that even after involution results in soft-tissue laxity
and discoloration. A. Initial presentation of lower-lip hemangioma. B. Two-year follow-up. C. Three-year follow-up. D. Four-year
follow-up. E,F. Surgical excision performed six years after initial presentation resulted in significant improvement in contour and
overall appearance.
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Congenital Hemangiomas
Although infantile hemangiomas are typically defined by their postnatal origins and development, a
subgroup of hemangiomas known as congenital hemangiomas arise within the fetus and are fully grown
at birth. Congenital hemangiomas have a characteristic appearance associated with their development,
which includes a surrounding whitish halo, pale central portion of the lesion, and otherwise reddish hue.
There are two main types of congenital hemangiomas: noninvoluting congenital hemangiomas (NICH)
and rapidly involuting congenital hemangiomas. Although both commonly present within the head and
neck region, noninvoluting hemangiomas demonstrate persistent fast flow and do not regress, whereas
rapidly involuting hemangiomas substantially regress within a few months of birth. Additionally,
congenital hemangiomas are distinguished from infantile hemangiomas based on the expression of
glucose transporter protein-1 (GLUT-1); congenital hemangiomas are negative for GLUT-1, whereas
infantile hemangiomas are positive. 35-37
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Hemangioendotheliomas
Hemangioendotheliomas are lesions that can manifest at birth or postnatally. Like other types of vascular
anomalies, history and physical examination is the key to proper diagnosis. Although these lesions do not
metastasize, hemangioendotheliomas are locally aggressive and characteristically enlarge beyond 5 cm in
diameter. They are most commonly located in the head and neck region and are equally common in
males and females. When these lesions are suspected, biopsy should be considered to rule out
malignancy.
38-40 Importantly, hemangioendotheliomas can present as part of Kasabach-Merritt
phenomenon. 41,42 In addition to causing pain and local-tissue destruction, hemangioendotheliomas are
also associated with thrombocytopenia and bleeding in this setting; platelet transfusions may exacerbate
swelling so should be avoided unless indicated for uncontrolled bleeding in this circumstance. Given the
aggressive, invasive nature of hemangioendotheliomas, resection is not commonly possible. Thus,
symptomatic control is the mainstay of care for these patients. For those with Kasabach-Merritt
phenomenon, vincristine is the first-line treatment; agents used to treat hemangiomas including beta
blockers
and
steroids
are
usually
ineffective
for
this
indication.
41,42
Although
some
hemangioendotheliomas regress by 2 years of age, many of these lesions do not involute with time,
necessitating symptomatic management as the main goal of care.
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Vascular Malformations
Epidemiology and Clinical Course
The key distinguishing factor between vascular malformations and hemangiomas is the timing of onset.
Unlike hemangiomas, vascular malformations are always present at birth because of aberrancies in vessel
formation in utero. 43-45 Although the lesion may not be clinically evident, vascular malformations are
characterized by this timeline. These lesions are equally common among males and females and grow
proportionately with the child over time. These lesions often enlarge to become symptomatic or clinically
evident at puberty because of the impact of hormonal changes on these lesions. Vascular malformations
do not involute. Many lesions are composed of a mixture of these vessel types and are therefore classified
as combined lesions; biopsy should be considered for any lesion when there is uncertainty regarding the
diagnosis. Similar to hemangiomas, vascular malformations can be associated with a variety of
concomitant conditions including platelet trapping and coagulopathy that may require further workup.
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Capillary Malformations
Composed of collections of thin-walled capillaries within the dermis, capillary malformations are slow-
flow lesions. As capillary malformations often manifest within a characteristic dermatomal distribution, it
is thought that these lesions are at least in part influenced by the autonomic nervous system. For example,
Sturge-Weber syndrome is defined by a capillary malformation within the V1 trigeminal nerve
distribution. These lesions are present at birth, do not involute, and grow concurrently with the patient. 45-
47 Capillary malformations occur with greater frequency among female children and can be associated
with various syndromes (Table 27.2).
TABLE 27.2
Syndromes/Anomalies Associated With Capillary Malformations
Syndrome
Characteristic Features
Sturge-Weber
syndrome
Capillary malformations in V1/V2 distribution, leptomeningeal capillary malformations (presents as seizures,
hemiplegia), ocular symptoms, developmental delay
Klippel-Trenaunay
syndrome
Capillary malformations, lymphatic malformations, hypertrophy of extremity (commonly lower extremity)
Parkes Weber
syndrome
Capillary malformation, AVMs, hypertrophy of extremity
Cobb syndrome
Capillary malformation of trunk, spinal AVM
AVM, arteriovenous malformation.
Isolated cutaneous capillary malformations do not require imaging for further characterization unless
uncertainty exists with regard to the presence of visceral lesions or to more clearly define the extent of
these lesions. If imaging is required for these purposes, MRI is one potential option. Ultrasound is
another option, but may simply demonstrate the presence of a high-flow lesion and is of limited value.
Three main lines of treatment are utilized in the management of capillary malformations. Observation is
the first option; this strategy is suitable for asymptomatic vascular malformations. For lesions that are
ulcerated and/or pigmented, pulsed dye laser represents an effective treatment when delivered in a serial
fashion. 48-50 Finally, excision is another option. In the setting of capillary malformations, excision in the
form of debulking is mainly indicated for patients presenting with soft-tissue/skeletal hypertrophy of the
tissues underlying the malformation (Figure 27.3). Once again, care must be taken to address the potential
for significant blood loss in these cases.
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FIGURE 27.3 Klippel-Trenaunay syndrome manifests as limb hypertrophy as a result of soft-tissue and bone overgrowth in the
presence of vascular malformations composed of lymphatics, venous, and/or capillaries. These lesions are very difficult to
manage depending on the severity of the disease process. Observation, pulsed dye laser, and excision are potential options of
treatment.
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Lymphatic Malformations
Lymphatic malformations are slow-flow lesions. Similar to other vascular malformations, these lesions
can also cause hypertrophy of the underlying soft tissues. The extent of these lesions is commonly
characterized by MRI. Imaging findings and the extent of symptoms dictate the need for treatment in
these cases. MRI findings include a soft-tissue mass with low signal on the T1 window and high signal
with fluid levels on the T2 window. Symptoms can range from mild pain to severe swelling, edema, and
recurrent infections. As with capillary malformations, observation is an option for asymptomatic lesions;
compression garments and wraps serve as important adjuncts. Conversely, well-defined, symptomatic
lesions that are not adjacent to anatomic structures of importance are amenable to intervention. Two main
interventions are commonly utilized: sclerotherapy and surgical excision. Macrocystic lesions are
commonly treated with sclerosing agents such as doxycycline, ethanol, and sodium tetradecyl sulfate.
Microcystic lesions are less amenable to sclerotherapy and are instead treated with surgical excision. 51,52
Direct excision and liposuction are potential techniques utilized for operative intervention. 53-55 Sirolimus
has recently been reported as an effective medical treatment, but convincing evidence is lacking.
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Venous Malformations
Venous malformations are composed of numerous thin-walled veins, many of which lack valves and
normal smooth muscle control. Consequently, these lesions are associated with swelling and edema at the
site of the malformation when in a dependent position; this characteristic feature is an important
component to isolate in the history and physical examination when a venous malformation is part of the
differential diagnosis (Figure 27.4). MRI demonstrates isointense signal within the lesion on the T1
window and high signal with signal voids at sites of phleboliths on the T2 window. Treatment of venous
malformations is similar to that of lymphatic malformations. Options include observation, compression
wraps, sclerotherapy, and excision for debulking. Low-dose aspirin therapy is helpful for pain due to
microthrombi. 56-59
FIGURE 27.4 Venous malformations are slow-flow lesions that can be distinguished by a history of swelling when the extremity
is placed in a dependent position. Such malformations can cause pain as a result of phleboliths and chronic inflammation.
Compression garments, sclerotherapy, and surgical excision are potential treatment options.
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Arteriovenous Malformations
AVMs are high-flow lesions that result from an abnormal connection between an artery and vein (Figure
27.5). 60,61 These malformations are thought to go through four main stages of development. In the first
stage, AVMs begin as quiescent lesions that may or may not be evident at birth. On imaging, however,
shunting is seen within these lesions on ultrasound. MRI demonstrates soft tissue thickening with flow
voids on the T1 window with a variable increase in signal and similar flow voids in the T2 window. Stage
2 consists of expansion of the AVM, which can manifest as a thrill or bruit on physical examination. As
the lesion progresses to the destructive phases (stage 3), episodes of bleeding, pain, and local-tissue
damage become apparent. Finally, stage 4 is associated with heart failure and continued local-tissue
destruction. Given the extensive blood loss commonly associated with AVMs as a result of the shunting
of blood between the arterial and venous systems, surgeons must be cautious prior to proceeding directly
to surgical resection. Thus, observation is one potential option for care. Importantly, however, AVMs can
progress and lead to significant sequelae including cardiac failure. Consequently, early intervention
should be considered to minimize the risk of subsequent complications. Treatment may be operative or
nonoperative, depending on the symptoms and anatomic location. When surgery is required,
preoperative embolization or ligation of the AVM can decrease blood loss and facilitate surgical resection.
These lesions may also be associated with syndromes and additional anomalies (Table 27.3). 62-68
FIGURE 27.5 Arteriovenous malformations are fast-flow lesions that are commonly treated with observation given their
invasive nature. Such malformations are present at birth and do not involute with time.
TABLE 27.3
Syndromes/Anomalies Associated With Arteriovenous Malformations (AVMs)
Syndrome
Characteristic Features
Bannayan-Zonana syndrome
AVMs, microcephaly, lipomas
Riley-Smith syndrome
AVMs, microcephaly, pseudopapilledema
Osler-Weber-Rendu disease
Cutaneous telangiectasias, frequent nosebleeds, AVMs of viscera
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Conclusion
Vascular anomalies represent common conditions among pediatric plastic surgery patients. Accurate,
timely diagnosis is imperative so that a proper treatment plan can be designed and implemented (Figure
27.6). Hemangiomas commonly regress without the need for intervention, whereas vascular
malformations grow in conjunction with the patient. Although pharmacologic agents are particularly
effective to prevent growth and potentially induce involution for hemangiomas, only interventions such
as sclerotherapy and surgical resection are used for vascular malformations. Thus, by understanding the
principles that guide the diagnosis of vascular anomalies to differentiate vascular tumors from
malformations, and properly diagnose and differentiate vascular malformations from vascular tumors
including hemangiomas, and recognizing the differences in treatment algorithms between these two
conditions, clinicians can improve outcomes among patients presenting with these common anomalies.
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FIGURE 27.6 Algorithm for management of common vascular anomalies.
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Questions
1. Which of the following syndromes is characterized by hemihypertrophy of a limb in the presence
of lymphaticovenous malformations?
a. Klippel-Trenaunay syndrome
b. Sturge-Weber syndrome
c. Osler-Weber-Rendu disease
d. Parkes Weber syndrome
e. Riley-Smith syndrome
2. A 3-week-old boy presents with a well-circumscribed but growing vascular lesion of the nasal tip,
which presented immediately after birth that is deforming the underlying anatomic structures. What
is the best first step in management that will decrease the extent of deformity?
a. Observation
b. Obtain additional imaging to confirm the diagnosis prior to treatment
c. Biopsy the lesion
d. Intralesional steroid injection
e. En bloc resection with lymph node biopsy
3. Which of the following lasers is commonly used to reduce the red discoloration associated with
superficial capillary malformations?
a. Pulsed dye laser
b. Yag laser
c. Erbium laser
d. Alexandrite laser
e. None of the above
4. A 10-year-old girl presents to you with Kasabach-Merritt syndrome. Which of the following
consultants should also be involved prior to surgical intervention?
a. Neurologist
b. Hematologist
c. Infectious disease specialist
d. No consultants needed
5. Which of the following congenital anomalies is defined by its presence as a fast-flow lesion present
upon birth?
a. Venous malformation
b. Epidermoid cyst
c. Infantile hemangioma
d. AVM
e. Dermoid cyst
1. Answer: a. Klippel-Trenaunay syndrome. This syndrome is defined by the presence of a vascular
malformation commonly composed of lymphatics, venous structures, and capillaries within a limb
that results in hypertrophy compared with the contralateral side (see Figure 27.5). Resection can be
difficult, as the malformation is commonly embedded within the surrounding anatomic structures.
2. Answer: d. Intralesional steroid injection. This lesion is likely a hemangioma of the nasal tip based
on the history and physical examination findings. During the proliferative phase, intralesional
steroid injection can prevent further growth of the lesion and minimize deformity in this manner.
Additional imaging and biopsy are unnecessary in these circumstances as the history and physical
examination are characteristic for a hemangioma.
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3. Answer: a. The pulsed dye laser is commonly used to treat the discoloration associated with
capillary malformations and hemangiomas. This laser targets oxyhemoglobin, which is why it is
useful for this indication, and delivers energy at a wavelength of 595 nm.
4. Answer: b. A hematologist should be consulted for patients presenting with Kasabach-Merritt
syndrome. Workup and evaluation of thrombocytopenia is critical for this patient population,
particularly prior to surgical intervention.
5. Answer: d. AVMs are fast-flow lesions. One of the key distinguishing features between
hemangiomas and vascular malformations is that the latter are present at birth. Venous
malformations are slow-flow lesions that are present at birth. Epidermoid cysts and dermoid cysts
can originate any time after birth and are not vascular structures. Infantile hemangiomas present
after birth and are one of the most common benign tumors among children.
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References
Mulliken, JB, Young, A. Vascular Birthmarks: Hemangiomas and Malformations. Philadelphia: WB Saunders; 1988.
Virchow, R. Angioma in die Krankhaften Geschwulste. Vol. 3. Berlin: Hirschwald; 1863:306-425.
Mulliken, JB, Glowacki, J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial
characteristics. Plast Reconstr Surg. 1982;69:412-422. In this landmark manuscript, Mulliken and Glowacki classify vascular anomalies into two
main categories: vascular malformations and hemangiomas. Using 49 specimens from various types of vascular lesions, the authors found that
hemangiomas were distinguished by endothelial hyperplasia and rapid growth during early infancy in the proliferative phase and by fibrosis and fatty
infiltration in the involuting phase. Vascular malformations were noted at birth and grew proportionately with the child. This manuscript has served as
the foundation for our current principles regarding the diagnosis of hemangiomas and vascular malformations.
Smoller, BR, Apfelberg, DB. Infantile (juvenile) capillary haemangioma: a tumor of heterogeneous cellular elements. J Cutan Pathol.
1993;20:330-336.
Mancini, AJ, Smoller, BR. Proliferation and apoptosis within juvenile capillary hemangiomas. Am J Dermatopathol. 1996;18:505-514.
Khan, ZA, Boscolo, E, Picard, A, et al. Multipotential stem cells recapitulate human infantile hemangioma in immunodeficient mice. J Clin
Invest. 2008;118:2592-2599.
Yu, Y, Flint, AF, Mulliken, JB, et al. Endothelial progenitor cells in infantile hemangioma. Blood. 2004;103:1373-1375.
Khan, ZA, Melero-Martin, JM, Wu, X, et al. Endothelial progenitor cells from infantile hemangioma and umbilical cord blood display unique
cellular responses to endostatin. Blood. 2006;108:915-921.
Kleinman, ME, Tepper, OM, Capla, JM, et al. Increased circulating AC133+ CD34+ endothelial progenitor cells in children with hemangioma.
Lymphat Res Biol. 2003;1:301-307.
Kleinman, ME, Greives, MR, Churgin, SS, et al. Hypoxia- induced mediators of stem/progenitor cell trafficking are increased in children with
hemangioma. Arterioscler Thromb Vasc Biol. 2007;27:2664-2670.
Kilcline, C, Frieden, IJ. Infantile hemangiomas: how common are they? A systematic review of the medical literature. Pediatr Dermatol.
2008;25:168-173.
Finn, MC, Glowacki, J, Mulliken, JB. Congenital vascular lesions: clinical application of a new classification. J Pediatr Surg. 1983;18:894-900.
Sloan, GM, Renisch, JF, Nichter, LS, et al. Intralesional corticosteroid therapy for infantile hemangiomas. Plast Reconstr Surg. 1989;83:459-467.
Sloan et al. administered intralesional corticosteroid injections consisting of a mixture of betamethasone and triamcinolone to 31 patients with
hemangiomas; most of these lesions were located in the craniofacial region. Of these lesions, 13% almost completely resolved, 32% showed greater than
50% reduction in volume, 32% demonstrated less than 50% reduction in volume, and 23% showed no change. As none of these lesions grew and there
were no complications, intralesional steroid injections were found to be a safe and potentially effective treatment for hemangiomas.
Barlow, CF, Priebe, C, Mulliken, JB, et al. Spastic diplegia as a complication of interferon-alfa-2a treatment of hemangiomas of infancy. J
Pediatr. 1998;132:527-530.
Haisley-Royster, C, Enjolras, O, Frieden, IJ, et al. Kasabach-merritt phenomenon: a retrospective study of treatment with vincristine. J Pediatr
Hematol Oncol. 2002;24:459-462.
Enjolras, O, Breviere, GM, Roger, G, et al. Vincristine treatment for function- and life-threatening infantile hemangioma. Arch Pediatr.
2004;11:99-107.
Zarem, HA, Edgerton, MT. Induced resolution of cavernous hemangiomas following prednisolone therapy. Plast Reconstr Surg. 1967;39:76-
83.
Boon, LM, MacDonald, DM, Mulliken, JB. Complications of systemic corticosteroid therapy for problematic hemangiomas. Plast Reconstr
Surg. 1999;104:1616-1623.
Bennett, ML, Fleischer, AB, Chamlin, SL, et al. Oral corticosteroid use is effective for cutaneous hemangiomas. Arch Dermatol. 2001;137:1208-
1213.
Greene, AK, Rogers, G, Mulliken, JB. Management of parotid hemangioma in 100 children. Plast Reconstr Surg. 2004;113:53-60.
Greene, AK. Corticosteroid treatment for problematic infantile hemangioma: evidence does not support an increased risk for cerebral palsy.
Pediatrics. 2008;126:1251-1252.
Greene, AK. Systemic Corticosteroid is effective and safe treatment for problematic infantile hemangioma. Pediatr Dermatol. 2010;23:322-323.
Greene, AK, Couto, RA. Oral prednisolone for infantile hemangioma: efficacy and safety using a standardized treatment protocol. Plast
Reconstr Surg. 2011;128:743-752. Hemangiomas in 25 patients were treated with oral prednisolone to determine the safety and efficacy of oral
corticosteroid treatment. Patients received a dose of 3 mg/kg/d for one month followed by a gradual taper. Of these hemangiomas, 88% regressed and
12% demonstrated stability in size. The most common complication was a transient cushingoid appearance.
Leaute-Labreze, C, Dumas de la Roque, E, Hubiche, T, et al. Propranolol for severe hemangiomas of infancy. N Engl J Med. 2008;358:2649-
2651. In this letter to the editor, Leaute-Labreze et al. use data obtained from eleven patients to demonstrate the safety and efficacy of propranolol for
hemangiomas. It is thought that propranolol may exert its effect by decreasing the expression of vascular endothelial growth factors, triggering
apoptosis within capillary endothelial cells, and inducing vasoconstriction.
Sans, V, Dumas de la Roque, E, Berge, J, et al. Propranolol for severe infantile hemangiomas: follow-up report. Pediatrics. 2009;124:423-431.
Lawley, LP, Siegfried, E, Todd, JL. Propranolol treatment for hemangioma of infancy: risks and recommendations. Pediatr Dermatol.
2009;26:610-614.
Frieden, IL, Drolet, BA. Propranolol for infantile hemangiomas: promise, peril, pathogenesis. Pediatr Dermatol. 2009;26:642-644.
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Holland, KE, Frieden, IJ, Frommelt, PC, et al. Hypoglycemia in children taking propranolol for the treatment of infantile hemangioma. Arch
Dermatol. 2010;146:775-778.
Pavlakovic, H, Kietz, S, Lauerer, P, et al. Hyperkalemia complicating propranolol treatment of an infantile hemangioma. Pediatrics.
2010;126:e1589-e1593.
Buckmiller, LM, Munson, PD, Dyamenahalli, U, et al. Propranolol for infantile hemangiomas: early experience at a tertiary vascular
anomalies center. Laryngoscope. 2010;120:676-681.
Goswamy, J, Rothera, MP, Bruce, IA. Failure of propranolol in the treatment of childhood haemangiomas of the head and neck. J Laryngol
Otol. 2011;125:1164-1172.
Scarcella, JV, Dykes, ER, Anderson, R. Hemangiomas of the parotid gland. Plast Reconstr Surg. 1965;36:38-47.
Williams, HB. Hemangiomas of the parotid gland in children. Plast Reconstr Surg. 1975;56:29-34.
Little, KE, Cywes, S, Davies, MR, et al. Complicated giant hemangioma: excision using cardiopulmonary bypass and deep hypothermia. J
Pediatr Surg. 1976;11:533-536.
Boon, LM, Enjolras, O, Mulliken, JB. Congenital hemangioma: evidence of accelerated involution. J Pediatr. 1996;128:329-335.
Enjolras, O, Mulliken, JB, Boon, LM, et al. Noninvoluting congenital hemangioma: a rare cutaneous vascular anomaly. Plast Reconstr Surg.
2001;107:1647-1654.
Berenguer, B, Mulliken, JB, Enjolras, O, et al. Rapidly involuting congenital hemangioma: clinical and histopathologic features. Pediatr Dev
Pathol. 2003;6:495-510.
Lyons, LL, North, PE, Mac-Moune Lai, F, et al. Kaposiform hemangioendothelioma: a study of 33 cases emphasizing its pathologic,
immunophenotypic, and biologic uniqueness from juvenile hemangioma. Am J Surg Pathol. 2004;28:559-568.
Debelenko, LV, Perez-Atayde, AR, Mulliken, JB, et al. D2–40 immunohistochemical analysis of pediatric vascular tumors reveals positivity in
kaposiform hemangioendothelioma. Mod Pathol. 2005;18:1454-1460.
Zukerberg, LR, Nikoloff, BJ, Weiss, SW. Kaposiform hemangioendothelioma of infancy and childhood: an aggressive neoplasm associated
with Kasabach–Merritt syndrome and lymphangiomatosis. Am J Surg Pathol. 1993;17:321-328.
Sarkar, M, Mulliken, JB, Kozakewich, HP, et al. Thrombocytopenic coagulopathy (Kasabach–Merritt phenomenon) is associated with
kaposiform hemangioendothelioma and not with common infantile hemangioma. Plast Reconstr Surg. 1997;100:1377-1386.
Enjolras, O, Wassef, M, Mazoyer, E, et al. Infants with Kasabach-Merritt syndrome do not have “true” hemangiomas. J Pediatr. 1997;130:631-
640.
Johnston, M. Radioautographic study of the migration and fate of cranial neural crests in the chick embryo. Anat Rec. 1966;156:143-155.
Nozue, T, Tsuzaki, M. Further studies on distribution of neural crest cells in prenatal or postnatal development in mice. Okajimas Folia Anat
Jpn. 1974;51:131-160.
Smoller, BR, Rosen, S. Port-wine stains. A disease of altered neural modulation of blood vessels? Arch Dermatol. 1986;122:177-179.
Cunha e Sa, M , Barroso, CP , Caldas, MC , et al. Innervation pattern of malformative cortical vessels in Sturge–Weber disease: a
histochemical, immunohistochemical, and ultrastructural study. Neurosurgery. 1997;41:872-876.
Enjolras, O, Riché, MC , Merland, JJ . Facial port-wine stains and Sturge–Weber syndrome. Pediatrics. 1985;76:48-51.
Tan, OT, Sherwood, K, Gilchrest, BA. Treatment of children with port-wine stains using the flashlamp- pulsed tunable dye laser. N Engl J
Med. 1989;320:416-421. Tan et al. treated port wine stains in 35 children with the pulsed dye laser. The authors reported that all lesions cleared after
an average of 6.5 laser treatments, and review the demographic and clinical characteristics associated with improved responsiveness in this manuscript.
Chapas, AM, Eickhorst, K, Geronemus, RG. Efficacy of early treatment of facial port wine stains in newborns: a review of 49 cases. Lasers
Surg Med. 2007;39:563-568.
Huikeshoven, M, Koster, PH, de Borgie, CA, et al. Redarkening of port-wine stains 10 years after pulsed- dye-laser treatment. N Engl J Med.
2007;356:1235-1240.
Padwa, BL, Hayward, PG, Ferraro, NF, et al. Cervicofacial lymphatic malformation: clinical course, surgical intervention, and pathogenesis
of skeletal hypertrophy. Plast Reconstr Surg. 1995;95:951-960.
Smith, MC, Zimmerman, B, Burke, DK, et al. Efficacy and safety of OK-432 immunotherapy of lymphatic malformations. Laryngoscope.
2009;119:107-115.
Choi, DJ, Alomari, AI, Chaudry, G, et al. Neurointerventional management of low-flow vascular malformations of the head and neck.
Neuroimaging Clin N Am. 2009;19:199-218.
Alomari, AI, Karian, VE, Lord, DJ, et al. Percutaneous sclerotherapy for lymphatic malformations: a retrospective analysis of patient-
evaluated improvement. J Vasc Interv Radiol. 2006;17:1639-1648.
Burrows, PE, Mitri, RK, Alomari, A, et al. Percutaneous sclerotherapy of lymphatic malformations with doxycycline. Lymphat Res Biol.
2008;6:209-216.
Padwa, BL, Hayward, PG, Ferraro, NF, et al. Cervicofacial lymphatic malformation: clinical course, surgical intervention, and pathogenesis
of skeletal hypertrophy. Plast Reconstr Surg. 1995;95:951-960.
Edwards, PD, Rahbar, R, Ferraro, NF, et al. Lymphatic malformation of the lingual base and oral floor. Plast Reconstr Surg. 2005;115:1906-
1915.
Upton, J, Coombs, CJ, Mulliken, JB, et al. Vascular malformations of the upper limb: a review of 270 patients. J Hand Surg (Am). 1999;24:1019-
1035.
Hein, KD, Mulliken, JB, Kozakewich, HP, et al. Venous malformations of skeletal muscle. Plast Reconstr Surg. 2002;110:1625-1635.
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Enjolras, O, Ciabrini, D, Mazoyer, E, et al. Extensive pure venous malformations in the upper or lower limb: a review of 27 cases. J Am Acad
Dermatol. 1997;36:219-225.
Adams, DM, Wentzel, MS. The role of the hematologist/oncologist in the care of patients with vascular anomalies. Pediatr Clin North Am.
2008;55:339-355.
Halsted, W. Congenital arteriovenous and lymphaticovenous fistulae: unique clinical and experimental observations. Proc Natl Acad Sci USA.
1919;5:76-79.
Holman, E. The physiology of an arteriovenous fistula. Am J Surg. 1955;89:1101-1108.
Mulliken, JB, Fishman, SJ, Burrows, PE. Vascular anomalies. Curr Probl Surg. 2000;37:517-584.
Kohout, MP, Hansen, M, Pribaz, JJ, et al. Arteriovenous malformations of the head and neck: natural history and management. Plast Reconstr
Surg. 1998;102:643-654. In this retrospective review of 81 patients with arteriovenous malformations at a single institution, the authors review the
natural history of these lesions. The most common site of arteriovenous malformations was in the midface. Lesions were more common in females than
in males. Characteristics associated with both positive and negative outcomes after treatment are discussed in this article.
Wu, IC, Orbach, DB. Neurointerventional management of high-flow vascular malformations of the head and neck. Neuroimaging Clin North
Am. 2009;19:219-240.
Liu, AS, Mulliken, JB, Zurakowski, D, et al. Extracranial arteriovenous malformations: natural progression and recurrence after treatment.
Plast Reconstr Surg. 2010;125:1185-1194.
Burrows, P, Laor, T, Paltiel, H, Robertson, R. Diagnostic imaging in the evaluation of vascular birthmarks. Pediatr Dermatol. 1998;16(3):455-
488.
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C H A P T E R 2 8
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Nonsyndromic Craniosynostosis and
Deformational Plagiocephaly
Jesse A. Taylor and Ian C. Hoppe
Key Points
The pathogenesis of nonsyndromic craniosynostosis is multifactorial, with some evidence that
certain forms may be related to genetic mutations, but less so than with cases of syndromic
craniosynostosis.
The growth of the infant’s cranial vault is directly related to the growing brain, and in some cases, its
restriction may lead to changes in skull shape and increased intracranial pressure (ICP). The effects
of elevated ICP as a result of craniosynostosis on neurodevelopment in children is controversial, but
treatment of the calvarial/orbital deformity may lead to improved skull shape and
neuropsychological well-being.
Differentiation between positional posterior plagiocephaly and lambdoid craniosynostosis is made
based on the shape of the head, position of the ears, the presence of a mastoid bulge, and the
appearance of the forehead on the affected side.
Although significant variability exists in type and timing of treatment, most centers intervene during
the first year of life to release any restriction on the growing brain, normalize appearance differences,
and minimize the risk of secondary deformities.
Certain craniosynostotic deformities are amenable to minimally invasive treatments that can result in
less perioperative morbidity and more rapid recovery. Enthusiasm for minimally invasive techniques
must be tempered by the lack of long-term follow-up and some reports of high revision rates.
Complications in craniosynostosis surgeries are fortunately rare but can be serious in nature and
warrant timely intervention.
Craniosynostosis is the premature fusion of one or more cranial sutures resulting in distinctive calvarial
and facial deformities, as well as the potential for neurocognitive impairment. Most interventions attempt
to address both of these concerns. Most cases are idiopathic, with a small number having genetic
underpinnings. Genetic forms of craniosynostosis may be associated with other noncraniofacial
deformities including limb and spine anomalies.
The pathophysiology of craniosynostosis is still poorly understood. Of historical note, Virchow correlated
the premature closure of cranial sutures with the development of distinctive deformities of the cranial
vault and made one of the first attempts to describe the deformities of the cranial vault and cranial base
seen in craniosynostosis. 1 His hypothesis was that the environment of the suture solely determined
whether it would remain patent, completely independent of any external influences (intracranial
contents). Virchow law states that closure of a cranial suture results in compensatory growth parallel to
the fused suture, with arrest of growth in a perpendicular fashion to the suture.
In the mid 20th century, Moss and Salentijn described the functional matrix theory, which dictates that
normal cranial vault development is dependent on a normal neural mass and its subsequent expansion. 2
Consequently, the suture itself may not be the primary source of the deformity; instead a complex
interplay between the cranial base and expanding brain may be the culprit.
The modern management of craniosynostosis involves early diagnosis with interventions aimed at
minimizing constricted brain growth and craniofacial deformities. A wide variety of procedures have
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been developed, including limited craniectomy with or without molding helmets, regional cranial vault
remodeling, whole vault remodeling, and cranial distraction osteogenesis.
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Anatomy and Embryology
The skull consists of the neurocranium (cranial vault and base) and the viscerocranium (facial bones). The
mammalian cranial vault is predominantly comprised of five bones: the paired frontal and parietal bones
and the interparietal bone, with contributions from parts of the temporal and sphenoid bones. These
bones derive from neural crest cells and form via intramembranous ossification. The boundaries between
these bones form sutures, specifically the paired coronal and lambdoid sutures and the sagittal and
metopic sutures. All sutures, with the exception of the metopic suture, are initiated at a point where
neural crest cells and mesoderm are in close approximation. Growth occurs perpendicular to the
orientation of sutures and is predominantly driven by the rapidly expanding brain during the infant
period. When a suture closes prematurely, this normal perpendicular growth does not occur and
compensatory growth occurs parallel to the affected suture. 3 A depiction of the various forms of
craniosynostosis are presented in Figure 28.1.
FIGURE 28.1 Clinical presentation of craniosynostosis.
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Epidemiology
The incidence of craniosynostosis is estimated to be between 1 in 2000 and 1 in 2500 live births, 4,5 with the
most common suture fused being sagittal, followed by coronal, metopic, and lambdoid. 6 Recently it has
been observed that metopic craniosynostosis is increasing in prevalence, with various hypotheses
explaining the phenomenon. 4,7,8 There is a paucity of literature on the evolving incidence of craniofacial
malformations, although sporadic reports have indicated a decreased incidence of live births given
increased utilization of prenatal genetic testing and imaging, which may have led to an increased rate of
termination of pregnancy in some parts of the world. 9,10
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Pathogenesis
Numerous theories and explanations have been set forth for the development of premature sutural fusion
and include genetic processes and external environmental causes.
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Genetics
The genetics of syndromic forms of craniosynostosis are fairly well described, but nonsyndromic single
sutural forms are more diverse and generally do not demonstrate as much uniformity. A very small
percentage of these are thought to be familial. 11 It is controversial to include genetic forms of
craniosynostosis in the syndromic versus the nonsyndromic category, although others have reported the
most common genetic mutations associated with nonsyndromic craniosynostoses to be FGFR3, FGFR2,
and TWIST1. 12 It is not entirely clear how these mutations cause craniosynostosis, but it is likely as a
result of abnormal signaling of growth factors and stem cells at the dura mater-cranial suture interface.
An examination of each suture and specific pathogenetic factors is presented in Table 28.1.
TABLE 28.1
Pathogenetic Factors of Craniosynostosis
Sex
Predominance
Familial Transmission
Rate
Genetics
Sagittal
Male
2%–6%
No consistent gene mutation identified
Coronal
Female
8%–14%
Mutations in FGFR3 (Muenke syndrome) and TWIST (Saethre-Chotzen syndrome)
identified
Metopic
Male
∼5%
No consistent gene mutation identified. Associated with cytogenetic abnormalities
(deletion of chromosome 11q24, trisomy/deletion of 9p, and deletion of 7p)
Lambdoid
Male
Several case reports of
familial transmission
No consistent gene mutations identified
In general, genetic counseling is recommended in all cases of craniosynostosis but is of particular
importance in the presence of coronal craniosynostosis or when multiple sutures are involved. 12 A
telomeric fluorescent in situ hybridization analysis may be indicated for complex cases involving
trigonocephaly. 11 This is an area of rapid clinical progress, and it is likely that genetic testing will become
increasingly prevalent and useful in the coming years. As the price of whole genome sequencing and
RNA sequencing drops, these more in-depth analyses will likely replace existing clinical tests. 13
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Other Potential Causes of Craniosynostosis
Intrauterine constraint has long been thought to contribute to certain presentations of craniosynostosis;
however, the actual relationship remains unclear. 14 The association of some forms of craniosynostosis
with plural births 15 seems to support this hypothesis, and the finding that fetal constraint can upregulate
FGFR2 along fusing coronal sutures and induce changes in the cranial base in a murine model further
strengthens the connection. 16,17 In addition, it has been found that lambdoid craniosynostosis is more
common in male infants and in mothers experiencing preterm labor. 18 Maternal smoking and exposure to
nitrosatable drugs in utero have been associated with certain forms of craniosynostosis. 19,20 The
development of craniosynostosis has been associated with a paternal occupation of mechanic or
repairman and in the agriculture and forestry sector. 21
In summary, the pathogenesis of craniosynostosis is likely multifactorial, with some cases attributable to
a germline genetic mutation. The exact cause of nonsyndromic craniosynostosis remains unknown and is
an active area of investigation.
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Deformational Plagiocephaly
The 1992 American Academy of Pediatrics Back to Sleep campaign began recommending a supine sleeping
position for all infants to reduce the rate of sudden infant death syndrome. The unintended side effect is
an increase in the number of cases of nonsynostotic positional cranial deformities. 22 These cases present
with a marked flattening of one or both sides of the occiput, oftentimes with compensatory changes in the
forehead and face. It is important to differentiate this condition from the similarly appearing, but
extremely rare, lambdoid craniosynostosis. This distinction can almost always be based on physical
examination (Table 28.2). The presence of a mastoid bulge on the involved side (Figure 28.2) is nearly
pathognomonic for lambdoid craniosynostosis and is rarely found in cases of positional plagiocephaly.
Correctly diagnosing positional plagiocephaly avoids unnecessary radiologic examinations and
intracranial procedures with their associated risks. The treatment of this condition is nonsurgical, with
encouragement of head turning, treatment of any underlying torticollis, physical therapy, and in some
cases helmet molding therapy.
TABLE 28.2
Differentiating Positional Plagiocephaly From Lambdoid Craniosynostosis
Characteristic
Positional Plagiocephaly
Unilateral Lambdoid Craniosynostosis
Head shape (vertex view)
Parallelogram
Trapezoid
Frontal bossing
Ipsilateral
Contralateral
Ipsilateral forehead
Anteriorly displaced
Retruded
Ipsilateral occipitomastoid bulge
Absent
Present
Ipsilateral ear position when viewed from above
Anteriorly displaced
Posteriorly displaced
Ipsilateral ear position when viewed from behind
Level
Inferiorly displaced
Ipsilateral mastoid bulge
Absent
Present
Ridging of ipsilateral lambdoid suture
Absent
Present
Onset
After birth
Present at birth
Incidence
Very common
Very rare
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FIGURE 28.2 Clinical distinctions between posterior positional plagiocephaly and lambdoid craniosynostosis.
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Diagnosis
Radiologic Investigation
Although the diagnosis of many forms of craniosynostosis can be made on physical examination alone, 23
a computed tomography (CT) scan is considered the standard for radiological imaging of cranial sutures,
with a sensitivity and specificity for craniosynostosis close to 98%. 23 The high resolution obtained with a
thin-slice CT scan provides a high-fidelity view of the bony and sutural architecture, can provide a high-
level view of any underlying intracranial pathology, and may assist in treatment planning. However, the
risk of subjecting an infant’s brain to the effects of ionizing radiation must be weighed against the
potential downsides. 23–26
In an effort to minimize or avoid exposure to ionizing radiation, some centers have developed ultrasound
and low-dose CT protocols. 27,28 Importantly, consultation with a specialist is recommended prior to
performance of imaging, as this will usually avoid any unnecessary tests.
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Intracranial Pressure and Neurodevelopmental Implications
When cranial sutures fuse prematurely, there can be growth restriction of the growing brain, potentially
leading to increased intracranial pressure (ICP) and neurocognitive impairment. In 1982, Renier and
colleagues published a landmark paper examining the incidence of ICP in patients with varying forms of
craniosynostosis 29 and found that approximately 14% of patients with single suture and 47% with
multisuture craniosynostosis experienced obviously elevated ICP. This was found to decrease
significantly following surgery to correct the deformity. These findings have been replicated, with some
studies suggesting that the number of patients with increased ICP may be underestimated. 30
Directly measuring ICP via placement of an intraventricular or intraparenchymal device is not practically
performed in every patient with craniosynostosis. Thus, there has been much effort to determine a less
invasive means of measuring it indirectly. Some of these methods include lumbar puncture (although
oftentimes this still requires anesthesia in the pediatric patient), visual-evoked potentials, hemodynamic
response to neonatal fontanelle compression, optic nerve sheath diameter, 31 and ocular coherence
tomography. 32
The ultimate concern with increased ICP in children with craniosynostosis is the effect that this has on
neuropsychological development. Most research in this area is confounded by the difficulty associated
with measuring cognitive function in young children but seem to point to a mild neurocognitive deficit in
this patient population. 33 A recent publication examining the difference between school-age children
with craniosynostosis and unaffected controls found lower scores on measures of intelligence quotient
and math in the group with craniosynostosis. 34 Another study found that timing of surgery, and
specifically an earlier age at correction, may correlate with improved long-term neurological outcomes. 35
Many questions remain to be answered relating to pathophysiology of craniosynostosis, the role of ICP,
and neurocognition. Based on the findings of the literature, it would seem prudent to refer patients with
craniosynostosis for routine neurodevelopmental screening.
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Operative Management of Craniosynostosis
General Considerations
Safety
Surgery for craniosynostosis is generally performed in large centers where a dedicated craniofacial team
exists. A team of craniofacial anesthesiologists who understands the unique needs of these patients
minimizes intraoperative complications such as under-resuscitation and other more catastrophic
sequelae. In addition, the ability to establish invasive monitoring in a timely manner results in more
expedient procedures. A dedicated nursing staff ensures that procedures are performed efficiently to
minimize anesthetic time for patients. A pediatric intensive care unit that understands these procedures
and how to care for these patients facilitates postoperative management.
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Timing
The optimal timing of surgery for craniosynostosis is controversial, with most centers performing surgery
within the first year of life. 36 Uncorrected restrictive deformities can be exacerbated by rapid brain
growth, but brain growth may also be harnessed with surgical intervention to aid in their correction. 37–39
Generally speaking, minimally invasive procedures such as strip craniectomy ± molding helmet, spring-
mediated cranial vault remodeling, and distraction-mediated cranial vault remodeling are performed
earlier, with most centers targeting 3 to 6 months of age. Open cranial vault remodeling techniques are
performed later, between 8 and 11 months of age. 36
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Informed Consent
Important things to include on informed consent for any cranial vault remodeling procedure include
those that you would include for any surgical procedure (infection, bleeding, scars, wound healing
complications, hematoma, seroma) as well as the possibility of skull contour irregularities, persistent
bone gaps, cerebrospinal fluid leak, bone malunion/nonunion, hardware infection/extrusion, the need for
additional procedures, and injury to the brain/eyes/nerves. It is important to stress that secondary
procedures are sometimes needed later in life to correct contour irregularities, orbital deformities, or
slight asymmetries or to close persistent bone gaps.
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Sagittal Craniosynostosis
A scaphocephalic head shape (elongated skull with bitemporal/biparietal narrowing, frontal bossing, and
occipital bulleting) and oftentimes a palpable ridge over the sagittal suture characterize this deformity
(Figure 28.3). The deformity may predominantly affect the anterior and/or posterior skull depending
upon what part of the sagittal suture is involved.
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FIGURE 28.3 Sagittal craniosynostosis. Preoperative patient photos (A,B) and computed tomography images (C,D). E.
Postoperative radiograph demonstrating spring placement. F,G. Postoperative photos after removal of springs.
The goals of surgical intervention include reducing the anteroposterior dimension of the skull, increasing
the skull height and width, and decreasing the frontal bossing/occipital bulleting. Numerous methods
have been advocated to accomplish this including simple strip craniectomy, the π-procedure, 40 subtotal
calvarial vault remodeling, endoscopic strip craniectomy with postoperative helmet therapy, and strip
craniectomy with placement of transutural springs. Each method presents with unique advantages and
challenges, with no single method being best for every patient. The more involved procedures (subtotal
vault remodeling, π procedure) have the advantage of attempting to correct the deformity in one stage
but carry the risks of maximally invasive surgery. 40 The minimally invasive procedures (suturectomies
with either helmeting or springs) carry less operative risk of bleeding and anesthesia time but need to be
performed earlier (2–4 months of age) to harness the rapid growth of the brain and skull at this age.
Endoscopic suturectomy with postoperative helmet therapy requires a prolonged period (9–18 months) of
intensive helmet therapy for which some families may be ill equipped. 41 Placement of springs following
suturectomy requires a second anesthetic for removal of the devices. Another method of managing the
deformity in sagittal craniosynostosis is to perform staged posterior and anterior vault remodeling
procedures. The posterior vault is traditionally performed first, as there have been reports of an
improvement in the anterior deformity following this intervention. 42 The posterior vault reconstruction is
performed at 9 to 12 months of age, followed by a traditional fronto-orbital advancement (FOA) if needed
at 18 to 24 months of age.
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Coronal Craniosynostosis
The cranial deformity caused by premature closure of one of the coronal sutures includes ipsilateral
forehead/supraorbital rim retrusion and brow elevation and contralateral forehead bossing (Figure 28.4).
This is caused by restriction of anterior growth of the anterior cranial vault on the affected side causing
compensatory growth on the unaffected side. The anterior restriction in growth is translated to the cranial
base through the greater wing of the sphenoid, resulting in the harlequin orbital deformity that is seen on
anteroposterior radiographs of patients with unicoronal craniosynostosis (Figure 28.5). The deformity of
the cranial base results in characteristic facial features, including nasal radix deviation toward the affected
side and chin point deviation toward the unaffected side.
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FIGURE 28.4 Right coronal craniosynostosis. Preoperative patient photos (A,B) and computed tomography images (C,D). E,F.
Postoperative photos after right-sided fronto-orbital advancement.
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FIGURE 28.5 Anteroposterior radiograph demonstrating harlequin eye deformity seen in coronal craniosynostosis.
Different treatment modalities have been proposed for this asymmetric condition including endoscopic
craniectomy with helmet therapy, spring-mediated distraction, formal distraction osteogenesis, and
conventional anterior cranial vault remodeling in the form of FOA. It is desirable to perform an
overcorrection of the deformity to accommodate future growth of the child. 43 If the patient presents early
(2–3 months of age), it may be possible to perform distraction osteogenesis for this deformity. A
description of these two methods is as follows.
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Fronto-Orbital Advancement Technique
The surgical procedure begins with placement of the child in the supine position, elevation of a bicoronal
flap to expose the supraorbital region, and elevation of the temporalis muscle on the affected side. It is
important to perform a subperiosteal dissection into the superior orbit (with care to protect the
supraorbital nerve) with exposure of the entire fronto-orbital region. A neurosurgeon performs a frontal
craniotomy and dissects the anterior cranial base and temporal region to facilitate access for osteotomies
of the fronto-orbital bandeau. Osteotomies are performed as illustrated in Figure 28.6. The affected side is
advanced (hinging on the unaffected side, supraorbital region); a bone graft is placed in the temporal
region to maintain the advancement, and a resorbable plate is used to fixate it in place. The frontal bone is
recontoured and replaced with resorbable plates and sutures. Any resultant bone gaps are filled with
shavings from the frontal bone flap, and the scalp is closed over a closed suction drain.
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FIGURE 28.6 Technique of two-thirds fronto-orbital advancement for the treatment of unicoronal craniosynostosis. A.
Osteotomies. B. Fixation.
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Fronto-Orbital Distraction Technique
The positioning and exposure is the same as for a traditional FOA. The anticipated craniotomy is marked,
usually extending from the contralateral mid-orbit to the ipsilateral pterion. It is important that the
neurosurgeon places a bur hole at the pterion for osteotomy of the greater wing of the sphenoid. When
performing distraction, it is critical to minimize dural dissection of the bone flap to preserve a pedicle to
the segment undergoing transport. A traditional craniotomy is performed posteriorly and carried into the
lateral portion of the fronto-orbital bandeau. An osteotome is introduced through the pterional window
and used to cut the greater wing of the sphenoid into the orbital roof. A perforating or interrupted
osteotomy is then performed from the contralateral mid-orbit to the posterior extent of the previously
made craniotomy (Figure 28.7). Finally, radial osteotomies of the ipsilateral orbital roof are performed to
correct the horizontally short orbit. A distractor is secured to the stable skull and the now completely
osteotomized bone flap with an anterior and slightly inferior vector.
FIGURE 28.7 Technique of fronto-orbital distraction for treatment of unicoronal craniosynostosis.
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Metopic Craniosynostosis
The deformity associated with premature closure of the metopic suture is termed trigonocephaly and
includes a keel-shaped forehead, hypotelorism, bitemporal narrowing, and oftentimes a palpable ridge
over the fused suture (Figure 28.8). The deformity can be extremely variable because of the fact that the
metopic suture normally closes before 8 months of age. The decision to intervene surgically is most often
based on the severity of the trigonocephaly, not the fact that the suture is closed.
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FIGURE 28.8 Metopic craniosynostosis. Preoperative patient photos (A,B) and computed tomography images (C,D). E,F.
Postoperative photos after bilateral fronto-orbital advancement.
Although some centers advocate endoscopic suturectomy and helmet therapy or spring-mediated
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distraction, the most widely accepted treatment of trigonocephaly is a bilateral FOA. The osteotomies are
performed bilaterally in a similar fashion to that described for unicoronal craniosynostosis. Following the
removal of the bandeau, it is often split in the midline and widened with an interpositional bone graft.
The lateral orbits are then bent inward to correct the bitemporal narrowing. The bandeau is then replaced,
and the frontal bone is often split in the middle and barrel staved to decrease projection.
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Lambdoid Craniosynostosis
Premature closure of the lambdoid suture is the least common form of craniosynostosis and results in
ipsilateral occipital flatness and a mastoid bulge, posteroinferior displacement of the ipsilateral ear, and
sometimes an ipsilateral frontal flattening. The most critical aspect in the diagnosis of lambdoid
craniosynostosis is differentiating it from positional plagiocephaly, which is far more common and
treated in a nonsurgical manner (see Figure 28.2 and Table 28.2).
The surgical treatment of lambdoid craniosynostosis is traditionally a posterior vault remodeling
procedure. This is accomplished by putting the patient in the prone position and elevating the scalp over
the occipital region. A posterior craniotomy is performed, and the misshaped occipital bones are
contoured and replaced with resorbable plates and screws. If extended reshaping is needed outside of the
region of the posterior craniotomy, barrel staves can be performed anteriorly and posteroinferiorly.
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Complications
Complications following surgery for craniosynostosis are reported in 1.1% to 3.5% of cases. 44 The types of
complications can be separated into acute perioperative complications (death, hemorrhage, venous air
embolism, cerebrospinal fluid fistula, blindness, infection) and those occurring months to years following
surgery (strabismus, sensory disturbances, contour irregularities).
Among the acute complications, perioperative death is the most feared and is estimated to be between
0.08% and 0.1% of cases, most often due to exsanguination. 45,46 Intraoperative hemorrhage is not
necessarily a complication, as a certain degree of blood loss is expected. However, inadvertent injury to a
sinus can result in catastrophic bleeding. Venous air embolism can occur whenever surgery is performed
above the level of the heart and noncollapsible veins are exposed to air. A pressure gradient develops
between atmospheric air and the bleeding vein (which can be worsened by hypotension) eventually
favoring air entry into the vein as opposed to blood egress from the vein. Venous air emboli are fairly
common during craniosynostosis surgery (up to 82% of patients experience an event) but few are
symptomatic. 47 If an air embolus is suspected and the patient is symptomatic, the treatment is placement
of a wet sponge over the operative field and putting the patient in the left lateral decubitus and
Trendelenburg position to discourage continued air entry into the venous system and position the right
ventricular outflow tract inferior to the right ventricular cavity. Cerebrospinal fluid leaks and
pseudomeningoceles can be caused by inadvertent injury to the dura during intracranial procedures.
Treatment of an asymptomatic cerebrospinal fluid leak is conservative with the removal of drains from
suction and elevation of the head of bed. 48
Ophthalmologic complications (strabismus, astigmatism, and amblyopia) following craniosynostosis
surgery are seen in cases of unicoronal craniosynostosis. Prior to surgery, patients with unicoronal
craniosynostosis are at higher risk for strabismus in the eye on the affected side and FOA appears to
increase the risk for its development. 49 It is not infrequent for these patients to require surgical correction
of the unbalanced extraocular muscles. A common concern for the craniofacial surgeon is preservation of
the supraorbital nerve during dissection of the orbits from a coronal approach. One of the more frequent
indications for reoperation in patients with craniosynostosis is the presence of bone gaps and contour
irregularities at skeletal maturity. 50 It is unclear what causes poor ossification in some patients leading to
the need for secondary cranioplasty. It is accepted practice to perform primary bone grafting from the
inner table of bone at the time of the initial procedure to try to minimize the development of these
sequelae. If persistent bony defects continue into the period of skeletal maturity, a secondary cranioplasty
may be performed to address the gaps and at the same time provide final contouring of any irregularities.
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Outcomes
One of the most difficult things to measure with regard to surgery for nonsyndromic craniosynostosis is
an objective outcome. In the simplest of terms, there are two major outcome measures: aesthetic and
neuropsychological. The most enduring measure of aesthetic outcome available in craniofacial surgery is
the Whitaker classification, which rates a result from I to IV. 39 A Whitaker class I is a patient in whom no
additional procedure is required. A class II indicates the need for a soft tissue or bone-contouring
procedure. Class III necessitates additional major osteotomies to be performed. Finally, a class IV result is
a patient in whom an additional major craniofacial procedure is required, essentially duplicating or
exceeding the original procedure.
Neuropsychological outcomes are even more difficult to quantify, as the changes that have been noted in
this population are extremely subtle and may not present in a typical fashion. In addition, it is very
difficult to reliably measure preoperative and postoperative metrics in this extremely young patient
population. Developmental milestones are used as a surrogate to determine patients who may be at risk
for untoward neuropsychological outcomes, but the use of these is far from precise and further research
needs to be performed to more accurately identify these at-risk patients.
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Questions
1. A 5-month-old girl presents to your office with her mother who is concerned about the appearance
of the back of her head. Which of the following clinical characteristics favors a diagnosis of lambdoid
craniosynostosis over positional posterior plagiocephaly?
a. Ears at same level when viewed from behind
b. Forehead on affected side retruded
c. Ear on affected side displaced anteriorly when viewed from above
d. Lack of deformity at birth, with gradual worsening
2. Which of the following clinical findings favors a diagnosis of right-sided unicoronal
craniosynostosis?
a. Left-sided brow elevation
b. Left-sided chin point deviation
c. Left-sided nasal radix deviation
d. Left-sided brow retrusion
3. Which of the following forms of craniosynostosis has most reliably been linked to testable genetic
mutations?
a. Sagittal
b. Metopic
c. Coronal
d. Lambdoid
4. What is the treatment of a suspected symptomatic intraoperative venous air embolism?
a. Abort procedure, close incision, and transfer to intensive care unit
b. Cover operative field with moist sponge and placement of patient in reverse Trendelenburg
position
c. Cover operative field with moist sponge and placement of patient in Trendelenburg position
d. Emergent cardiac catheterization
5. Which of the following operative strategies is most likely to result in a Whitaker I result following
treatment for nonsyndromic craniosynostosis?
a. Intervention after 1 year of age
b. Overcorrection of the deformity
c. Use of minimally invasive techniques
d. Limited incisions
1. Answer: b. Differentiating positional posterior plagiocephaly from true lambdoid craniosynostosis
is important to avoid unnecessary imaging or treatment. Table 28.2 provides a comparison of the
clinical features seen in the two conditions.
2. Answer: b. Unicoronal craniosynostosis is characterized by ipsilateral brow elevation and
retrusion, ipsilateral nasal radix deviation, and contralateral chin point deviation.
3. Answer: c. Mutations in FGFR3 (Muenke syndrome) and TWIST (Saethre-Chotzen syndrome)
have been identified in cases of coronal craniosynostosis. The other forms of craniosynostosis have
not been reliably linked to specific mutations.
4. Answer: c. Venous air embolism can occur whenever surgery is performed above the level of the
heart and noncollapsible veins are exposed to air. A pressure gradient develops between
atmospheric air and the bleeding vein (which can be worsened by hypotension) eventually favoring
air entry into the vein as opposed to blood egress from the vein. If air emboli are suspected and the
patient is symptomatic, the treatment is placement of a wet sponge over the operative field and
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putting the patient in the left lateral decubitus and Trendelenburg position to discourage continued
air entry into the venous system and position the right ventricular outflow tract inferior to the right
ventricular cavity.
5. Answer: b. A Whitaker I result is any patient in whom no additional surgical procedures would be
recommended. The most important factor in obtaining a stable long-term postoperative result is
overcorrection of the deformity to account for continued growth of the child. Intervention prior to
1 year of age is desirable to harness the rapid growth of the infant brain. The use of minimally
invasive techniques and limited incisions has not been shown to result in less operative
reinterventions (Whitaker I result).
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References
Persing, JA, Jane, JA, Shaffrey, M. Virchow and the pathogenesis of craniosynostosis: a translation of his original work. Plast Reconstr Surg.
1989;83(4):738-742.
Moss, ML, Salentijn, L. The primary role of functional matrices in facial growth. Am J Orthod. 1969;55(6):566-577.
Morriss-Kay, GM, Wilkie, AO. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and
experimental studies. J Anat. 2005;207(5):637-653.
Di Rocco, F, Arnaud, E, Renier, D. Evolution in the frequency of nonsyndromic craniosynostosis. J Neurosurg Pediatr. 2009;4(1):21-25.
Shuper, A, Merlob, P, Grunebaum, M, Reisner, SH. The incidence of isolated craniosynostosis in the newborn infant. Am J Dis Child.
1985;139(1):85-86.
Shillito, J Jr, Matson, DD. Craniosynostosis: a review of 519 surgical patients. Pediatrics. 1968;41(4):829-853.
Selber, J, Reid, RR, Chike-Obi, CJ, et al. The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg.
2008;122(2):527-533.
van der Meulen, J, van der Hulst, R, van Adrichem, L, et al. The increase of metopic synostosis: a pan-European observation. J Craniofac Surg.
2009;20(2):283-286.
Maarse, W, Boonacker, CW, Lapid, O, et al. Professional opinion on oral cleft during pregnancy: a comparison between Israel and The
Netherlands. Prenatal Diagn. 2015;35(6):544-548.
Zlotogora, J, Haklai, Z, Rotem, N, Georgi, M, Rubin, L. The impact of prenatal diagnosis and termination of pregnancy on the relative
incidence of malformations at birth among Jews and Muslim Arabs in Israel. Isr Med Assoc J. 2010;12(9):539-542.
Boyadjiev, SA, International Craniosynostosis, C. Genetic analysis of non-syndromic craniosynostosis. Orthodont Craniofac Res.
2007;10(3):129-137.
Johnson, D, Wilkie, AO. Craniosynostosis Eur J Hum Genet. 2011;19(4):369-376.
National Institute of Health. The Cost of Sequencing a Human Genome. Updated July 6, 2016.
Accessed November 2, 2017.
Higginbottom, MC, Jones, KL, James, HE. Intrauterine constraint and craniosynostosis. Neurosurgery. 1980;6(1):39-44.
Alderman, BW, Lammer, EJ, Joshua, SC, et al. An epidemiologic study of craniosynostosis: risk indicators for the occurrence of
craniosynostosis in Colorado. Am J Epidemiol. 1988;128(2):431-438.
Hunenko, O, Karmacharya, J, Ong, G, Kirschner, RE. Toward an understanding of nonsyndromic craniosynostosis: altered patterns of TGF-
beta receptor and FGF receptor expression induced by intrauterine head constraint. Ann Plast Surg. 2001;46(5):546-553.
Smartt, JM Jr, Karmacharya, J, Gannon, FH, et al. Intrauterine fetal constraint induces chondrocyte apoptosis and premature ossification of
the cranial base. Plast Reconstr Surg. 2005;116(5):1363-1369.
Shahinian, HK, Jaekle, R, Suh, RH, et al Obstetrical factors governing the etiopathogenesis of lambdoid synostosis. Am J Perinatol.
1998;15(5):281-286.
Gardner, JS, Guyard-Boileau, B, Alderman, BW, et al. Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of
abuse and risk of craniosynostosis. Int J Epidemiol. 1998;27(1):64-67.
Kallen, K. Maternal smoking and craniosynostosis. Teratology. 1999;60(3):146-150.
Bradley, CM, Alderman, BW, Williams, MA, et al. Parental occupations as risk factors for craniosynostosis in offspring. Epidemiology.
1995;6(3):306-310.
American Academy of Pediatrics AAP Task Force on Infant Positioning and SIDS. Positioning and SIDS. Pediatrics. 1992;89(6 Pt 1):1120-
1126.Prior to the release of this report positional plagiocephaly was not recognized as a disease process. The meteoric rise in the diagnosis of posterior
plagiocephaly following its release resulted in the establishment of the differences between this deformity and true lambdoid craniosynostosis.
Fearon, JA, Singh, DJ, Beals, SP, Yu, JC. The diagnosis and treatment of single-sutural synostoses: are computed tomographic scans
necessary? Plast Reconstr Surg. 2007;120(5):1327-1331.
Agrawal, D, Steinbok, P, Cochrane, DD. Diagnosis of isolated sagittal synostosis: are radiographic studies necessary? Child Nerv Syst.
2006;22(4):375-378.
Cerovac, S, Neil-Dwyer, JG, Rich, P, et al. Are routine preoperative CT scans necessary in the management of single suture craniosynostosis?
Br J Neurosurg. 2002;16(4):348-354.
Domeshek, LF, Mukundan, S Jr, Yoshizumi, T, Marcus, JR. Increasing concern regarding computed tomography irradiation in craniofacial
surgery. Plast Reconstr Surg. 2009;123(4):1313-1320.
Soboleski, D, Mussari, B, McCloskey, D, et al. High-resolution sonography of the abnormal cranial suture. Pediatr Radiol. 1998;28(2):79-82.
Craven, CM, Naik, KS, Blanshard, KS, et al. Multispiral three-dimensional computed tomography in the investigation of craniosynostosis:
technique optimization. Br J Radiol. 1995;68(811):724-730.
Renier, D, Sainte-Rose, C, Marchac, D, Hirsch, JF. Intracranial pressure in craniostenosis. J Neurosurg. 1982;57(3):370-377.This landmark article
established the rate of elevated intracranial pressure in patients with craniosynostosis. In addition, it was found that patients were at an increased risk
of this complication if multiple sutures were fused.
Wall, SA, Thomas, GP, Johnson, D, et al. The preoperative incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis
is underestimated in the literature. J Neurosurg Pediatr. 2014;14(6):674-681.
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