Abstract
PHACES syndrome is a neurocutaneous disorder characterized by posterior fossa brain malformations, hemangiomas, cardiac anomalies and coarctation of aorta, eye anomalies ± sternal clefts. All reported cases are sporadic and notably common in females. The underlying cause is unknown. Here is described, one of the twin baby with characteristic features of PHACE syndrome. The presence of large segmental hemangioma, especially on face should prompt the primary care provider to act early, to prevent complications related to facial hemangiomas and other associated anomalies.
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Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects and eye abnormalities. Arch Dermatol 1996; 132: 307–311.
Haggstrom AN, Lammer EJ, Schneider RA, Marcuio R, Frieden IJ. Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics 2006; 117: 698–703.
Chang LC, Haggstrom AN, Drolet BA et al. Growth characteristics of infantile hemangiomas: implications for management. Pediatrics 2008;122: 360–367.
Metry DW, Haggstrom AN, Drolet BA et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A 2006; 140: 975–986.
Pascual-Castroviejo I. Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiol 1978; 16: 82–84.
Vermeer S, van Oostrom CG, Boetes C, Verrips A, Knoers NV. A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and sternal malformation — vascular dysplasia association are part of the same spectrum of malformations. Clin Dysmorphol 2005; 14: 203–206.
Metry DW, Siegel DH, Cordisco MR et al. A comparison of disease severity among affected male versus female patients with PHACE syndrome. J Am Acad Dermatol 2008; 58: 81–87.
Bronzetti G, Giardini A, Patrizi A et al. Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review. Pediatrics 2004; 113: 412–415.
Heyer LG, Millar WS, Ghatan S, Garzon MC. The neurological aspects of PHACE: case report and review of literature. Pediatr Neurol 2006; 35: 419–424.
Opitz JM, Gilbert EF. CNS anomalies and the midline as “developmental field” Am J Med Genet 1982; 12: 443–455.
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Patil, S.J., Moray, A.A., Kiran, V.S. et al. PHACE/S syndrome: A syndromic infantile segmental hemangioma. Indian J Pediatr 77, 911–913 (2010). https://doi.org/10.1007/s12098-010-0136-8
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DOI: https://doi.org/10.1007/s12098-010-0136-8