PHACE Syndrome

PHACE Syndrome is the uncommon association between a large hemangioma on the face and abnormal development of the brain, blood vessels in the brain, heart, blood vessels in the heart, or (rarely) eyes. Uncommonly there can also be abnormalities of the skin in the middle of the chest or stomach. These problems are present at birth. The cause of PHACE is not known, but it does not appear to run in families, as there has never been more than 1 affected family member reported.

PHACE(S) stands for:

Posterior fossa abnormalities: abnormal development of the back of the brain.

​​Hemangiomas: large and often patterned (not round) on the face.

Arterial: abnormal blood vessels of the brain and/or neck.

Cardiac: abnormalities of the heart and/or aortic arch (blood vessels coming from the heart)

Eye abnormalities.

Sternal defects and/or supraumbilical raphe: skin changes over the chest or stomach.

Symptoms/History

Other than the hemangioma, the most common problems seen in PHACE are blood vessel abnormalities of the brain, neck or heart. It is very rare for a child to have every possible abnormality listed above. While many children with PHACE are otherwise normal, some may be at-risk for neurologic problems such as migraine-like headaches, seizures, and delays in development. While stroke has been reported in PHACE, this association is very rare.

Diagnosis

Clinical exam. The typical PHACE hemangioma is not usually round but spreads over an area of skin. It is often mistaken at first for a “port-wine stain”, which is a different birthmark that is present at birth and does not grow during infancy or involute. The diagnosis of PHACE is made by examination of the hemangioma, skin over the chest and abdomen, eyes, and imaging (special pictures) of the head, neck, and heart.

Imaging. To complete the diagnosis of PHACE, it requires imaging (special pictures) of the head, neck and heart. Most often, this imaging includes a MRI and MRA of the head and neck, and an echocardiogram (ultrasound) of the heart.

Pathology. A skin biopsy is not required to make the diagnosis of PHACE.

Genetics. A genetic cause for PHACE has not been identified, but genetic studies are in progress. In order to learn more about PHACE, a PHACE Registry has been established (you may discuss with your doctor for information on how to enroll).

Treatment

As the typical PHACE hemangioma is large and located on the face, medical treatment during infancy is often needed (see Hemangioma treatment, above). If you are worried your child may have PHACE syndrome, it is important your child be seen by a doctor who is knowledgeable about the diagnosis and treatment of hemangiomas and PHACE.