PHACE syndrome

PHACE syndrome is a medical condition characterized by uncommon associations between birth defects of the brain, skin (large facial infantile hemangiomas), arteries, heart and eyes.

According to one study of infants with large hemangiomas, one-third have symptoms consistent with the diagnosis of PHACE syndrome.

[4] Hemangiomas associated with PHACE syndrome are generally small or not visible at birth, but often escalate after days or weeks, gradually becoming easier to see.

[6] As it grows, the hemangioma can break down the skin, distort facial features, or get in the way of other vital functions, such as breathing, vision, and hearing.

Since the initial sign of PHACE syndrome is usually a large facial hemangioma, infants born with this condition should be further evaluated to diagnose or rule out PHACE syndrome through a series of radiologic tests such as magnetic resonance images (MRI) or magnetic resonance angiograms (MRA) of the head, neck, and chest.

These medical professionals include, but are not limited to, dermatologists; ophthalmologists; cardiologists; endocrinologists; neurologists and or neurosurgeons; otolaryngologists; dentists; speech pathologists; psychiatrists; and many others.

[13] The association of anomalies and the PHACES acronym was first coined by Dr. Vail Reese and Dr. Ilona Frieden in 1996, making it a newly described syndrome.