PHACE syndrome
Pronunciation: FACE syndrome
A rare neurocutaneous syndrome characterized by large facial hemangiomas associated with structural malformations of the brain, heart, and eyes.
Full Definition
PHACE syndrome is an acronym standing for Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects, and Eye abnormalities. This rare condition primarily affects females and is diagnosed when a large facial hemangioma (typically >5cm) is present along with one or more of the associated structural anomalies. Patients require multidisciplinary evaluation including neuroimaging, echocardiography, and ophthalmologic assessment. Early recognition is crucial as some associated anomalies may require urgent intervention.
Usage
Usage note: Always capitalize as acronym; explain components when first mentioned in documentation.
In Context
- "Large segmental facial hemangioma raises concern for PHACE syndrome; MRI brain and echocardiogram ordered." — Consultation note
- "PHACE syndrome workup negative; hemangioma determined to be isolated finding." — Follow-up assessment