PHACE syndrome: A review

Abstract

PHACE syndrome is a neurocutaneous disorder consisting of posterior fossa brain abnormalities, facial infantile hemangioma, arterial anomalies, cardiac anomalies (most commonly coarctation of the aorta), and eye anomalies. While the cutaneous finding of infantile hemangioma represents the most clinically apparent feature, extracutaneous findings-specifically, developmental abnormalities of the aorta and medium-sized thoracic, cervical, and cerebral arteries-are common and pose significant potential morbidity and mortality. Cerebral arteriopathy can be progressive and lead to arterial ischemic stroke in childhood and increased stroke risk in adulthood; headache and neurodevelopmental symptoms are also common. Thus, it is important for pediatric neurologists to be familiar with this disorder and its potential structural and functional neurological sequelae. This review article summarizes the clinical features, diagnostic considerations, epidemiology, and management of this condition with an emphasis on features most pertinent to the practicing pediatric neurologist.

Keywords: Arteriopathy; Cerebrovascular anomaly; Hemangioma; Multiple congenital anomalies; Neurocutaneous syndrome; Pediatric stroke.