PHACE Syndrome

Excerpt

Infantile hemangioma is the most prevalent benign tumor of infancy. The estimated incidence is between 4% and 5%. Large facial segmental hemangioma has associations with PHACES syndrome (PS), which is an acronym for posterior fossa malformations, hemangioma of the cervicofacial region, arterial anomalies, cardiac anomalies, eye anomalies, and sternal or abdominal clefting or ectopia cordis. It was first described in 1996 by Frieden and colleagues and named PHACE syndrome. After that, Boulinguez and colleagues changed the acronym to PHACES syndrome by adding sternal defects (S). PS is a rare congenital cervicofacial infantile hemangioma. It occurs in 2% of cases. It is a neurocutaneous syndrome, characteristically demonstrating a segmental distribution usually involving the face, neck, and scalp, either as one lesion or many lesions. This rare congenital disease includes dermatological, cardiac, neurological, and ocular manifestations. The most common extracutaneous manifestations are the structural brain, cerebrovascular, and cardiovascular abnormalities.