The many faces of PHACE syndrome

Objectives: PHACE is an acronym coined to describe a neurocutaneous syndrom e encompassing the following features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities. We evaluated the spectrum of disease a nd significance of potential underlying brain anomalies among affect-ed chi ldren. Study design: The records of 14 patients with PHACE. syndrome, evaluated be tween 1995 and 2000, were retrospectively reviewed. A literature review rev ealed 116 additional cases. Results: PHACE syndrome represents a spectrum of anomalies, because most af fected children have only one extracutaneous manifestation. The syndrome is associated with a high incidence of arterial and structural central nervou s system anomalies with secondary neurologic sequelae. The potential for pr ogressive neurovascular disease also exists among those patients with anoma lous vasculature. Conclusion: PHACE syndrome should be considered in any infant presenting wi th a large, segmental, plaque-type facial hemangioma. Children at risk shou ld receive careful ophthalmologic, cardiac, and neurologic assessment.