PHACE Syndrome—before and after Propranolol Therapy

A 5-week-old girl presented to our neuropediatric department to rule out Sturge-Weber syndrome. Eventually, our investigations led to a suspicion of posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities (PHACE) syndrome, a different phacomatosis. We then successfully initiated treatment with propranolol for an extensive facial hemangioma. Postnatally, the mother noted a reddish shimmer on the girl's face, growing rapidly (Figure, A). Initially, the facial lesion was considered to be an atypical port wine-stain, unresponsive to beta-blockers.

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