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Putting Our Best PHACE Forward

Brain MRI, ophthalmological examination, and echocardiogram should be part of the work-up of infants with large facial segmental hemangiomas.

PHACE is the acronym for an uncommon neurocutaneous syndrome that appears in a small subset of patients with infant hemangiomas (IHs). PHACE syndrome is idiopathic, sporadic, and likely stems from a developmental field defect occurring early in gestation. Anomalies of this syndrome include Posterior fossa brain defects, Hemangiomas, Arterial anomalies, Cardiac defects (or Coarctation of aorta), and Eye anomalies (see JW Dermatol Aug 18 2006). Sternal clefting (or Supraumbilical raphe) is sometimes included (PHACES). Because most reports have discussed hemangioma plus one extracutaneous finding, the disease spectrum is not well characterized. Recently, a multidisciplinary team used expert consensus and PHACE registry data to better define the extracutaneous features specific to PHACE syndrome and make screening recommendations. A diagnostic criteria tool based on their findings is currently in press.

The male:female ratio was 9:1 in PHACE, as opposed to 4:1 in classic IH. Structural anomalies occurred ipsilateral to the hemangioma. Cerebrovascular anomalies were the most common extracutaneous manifestation and can lead to stroke. Structural brain anomalies included posterior fossa malformations, such as Dandy-Walker malformation and ipsi-unilateral cerebellar hypoplasia. The authors discuss the use of screening tools:

• MRI, with and without gadolinium contrast, for CNS disease Echocardiogram for the most common cardiac anomalies — atypical proximal coarctation of the aorta and right aortic arch, and aberrant origin of brachiocephalic arteries
  
• Ophthalmologic exam is mandatory to rule out optic nerve anomalies, coloboma, microphthalmia, amblyopia, and other problems
  

Comment: The initial work-up for infants with large facial segmental hemangiomas should include brain MRI, ophthalmological examination, and echocardiogram. Extracutaneous disease requires multidisciplinary management. Ulceration is common in hemangiomas and often severe. Whether aspirin should be used for stroke prophylaxis requires careful decision making. The updated diagnostic guidelines will be valuable for clinical management and genetic research in both PHACE and classic IH.

— Mary Wu Chang, MD

Published in Journal Watch Dermatology October 23, 2009

Citation(s):

Metry DW et al. PHACE syndrome: Current knowledge, future directions. Pediatr Dermatol 2009 Jul/Aug; 26:381.

• Medline abstract (Free)