Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies and Eye Abnormalities Syndrome (PHACE)

PHACE is the acronym for a condition that includes a large hemangioma in combination with one or more other defined abnormalities. General characteristics of this syndrome include:

• Posterior fossa malformations, which are present at birth
• Hemangioma, which usually covers a large area on the skin of the head or neck (greater than 5 cm)
  • The term "segmental" is sometimes used to describe these hemangiomas.
• Arterial lesions, or abnormalities of the blood vessels in the neck or head
• Cardiac abnormalities, which could include aortic coarctation and/or other abnormalities of the heart or the blood vessels 
• Eye abnormalities

This syndrome is not inherited and to date, there is no known cause.

Diagnosis

Infants presenting with a large facial hemangioma should be initially evaluated by a dermatologist or a specialist in vascular anomalies. If PHACE syndrome is suspected, then the following tests will be needed:

• MRI/MRA of the head, neck and chest
• Echocardiogram

If the above studies are indicative of PHACE, then the following specialists may be consulted in your child’s care:

• Dermatologists
• Cardiologists
• Ophthalmologists
• Hematologists/oncologists
• Radiologists
• Neurologists
• Geneticists
• Otolaryngologists

Potential Complications

Complications can vary based on each patient, and symptoms are more likely to persist even after the hemangiomas have improved.

• If the hemangioma is extensive, it may lead to skin breakdown, bleeding and pain. Encroachment of the hemangioma on the eye of mouth may lead to vision and feeding difficulties.
• If the child has posterior brain fossa anomalies, then neurological symptoms such as headaches, seizures, developmental delays, speech delays and risk of ischemic strokes may persist.
• If the child has associated cardiac findings, these may require surgical correction.
• If there is eye involvement, the child will need to be followed closely by an ophthalmologist to monitor for vision impairment.

Treatment

Treatment for PHACE syndrome focuses on the individual’s specific findings and depends on the severity of the disease.

Managing the extensive hemangioma may include:

• Timolol maleate, a topical medication
• Propranolol, which is used extensively but should be closely monitored for patients with heart or blood vessel problems due to the risk of stroke
• Pain medication

In addition, specific medications may be prescribed for associated cardiac conditions. For example, low-dose aspirin could be prescribed for those individuals at high risk of stroke.

Corrective surgeries and procedures will depend on individual medical problems. These may include:

• Neurosurgery
• Cardiac surgery
• Ophthalmologic surgery