Extensive Facial Hemangiomas With Serious Associated Systemic Abnormalities

Mohamed A.W. Hussein, MD; David K. Coats, MD; Denise W. Metry, MD Series Editor: David K. Coats, MD


October 07, 2002


This case underscores the importance of being aware of all aspects of a patient's health. Large facial hemangiomas have been associated with significant underlying health concerns. Moreover, they are one of a distinctive group of anomalies -- arterial, central nervous system, and ophthalmologic -- known as the PHACE syndrome. The term PHACE highlights the features of this neurocutaneous syndrome: posterior fossa malformation (p), large and/or extensive facial hemangiomas (h), arterial malformations (a), cardiac anomalies and aortic coarctation (c), and eye abnormalities (e). Cases where ventral developmental defects, including sternal clefting and/or supraumbilical raphe, are present are referred to as the PHACES syndrome.[1]

Facial hemangiomas are the most striking external feature of PHACE syndrome and are not uncommonly the first presentation. As a result, dermatologists and ophthalmologists are often the first specialists consulted and the first to suspect the diagnosis of PHACE syndrome. Nonfacial cutaneous hemangiomas involving other parts of the head and neck have been seen in association with this syndrome,[2] as have hemangiomas involving other structures and internal organs, including the liver.[3] The most common arterial anomaly reported is coarctation of the aorta,[4] while the most common central nervous system abnormality reported is the Dandy-Walker malformation.[5]

Ophthalmologic manifestations have been reported in approximately 20% of cases.[2] Reported ophthalmologic manifestations, most commonly seen ipsilateral to the facial hemangioma, have included retinal vascular abnormalities, microophthalmus, optic atrophy, iris vessel hypertrophy, iris hypoplasia, optic nerve hypoplasia, morning glory disc, congenital cataract, sclerocornea, lens coloboma, and exophthalmus.[1,2,6,7,8] Other less commonly associated ocular abnormalities have included cranial nerve palsies and Horner syndrome.[7] Rare ocular complications contralateral to the site of the facial hemangioma have included glaucoma[9] and optic nerve hypoplasia.[10]

Hemangiomas that occur in the PHACE syndrome are treated no differently from other hemangiomas. The most common treatment options include systemic and local steroid administration. Other ophthalmologic complications are likewise treated using standard treatment regimens. Special attention should be directed to prevention, detection, and treatment of amblyopia.