What is PHACE syndrome?

PHACE syndrome is an association between certain abnormalities and a large vascular birthmark, called an infantile hemangioma. The hemangioma appears as a “strawberry” birthmark on the face, scalp and/or neck.

PHACE is an acronym for the anomalies the condition may cause:

• Posterior fossa malformations – abnormalities of the part of the brain that is located near the base of the skull
• Hemangioma – a benign (non-cancerous) vascular tumor
• Arterial anomalies – abnormalities of the arteries
• Coarctation of the aorta/cardiac defects – abnormalities of the heart and its major blood vessels
• Eye abnormalities
• The letter “S” is added to form the acronym PHACES when sternal malformations — abnormalities of the breastbone — are also present.

What causes PHACE syndrome?

PHACE syndrome is uncommon and occurs more frequently in girls than in boys. Its cause is unknown.

What are the symptoms of PHACE syndrome?

The symptoms and severity of PHACE vary by the location of the hemangioma and which parts of the body are involved. Hemangiomas near the eye can cause problems with the development of normal vision. Those around the mouth or in the airway can interfere with breathing. Hemangiomas on the nose and ear can cause damage to the underlying cartilage and may distort adjacent tissues. Hemangiomas on the face and skull can cause structural abnormalities of the brain and brain function.

Skin ulcerations can be a painful complication of PHACE.

How is PHACE syndrome diagnosed?

PHACE is diagnosed by the presence of a hemangioma usually larger than 5 centimeters in diameter and in a segmental or patterned distribution (not round or oval). Imaging tests of the underlying areas will confirm the diagnosis. Depending on the location of the hemangioma, tests may include:

• Magnetic resonance imaging (MRI)
• Magnetic resonance angiography (MRA), which provides pictures of  the body’s blood vessels
• Echocardiogram of the heart
• Ophthalmology exam to check for problems with vision development

What are the treatment options?

The treatment of choice for children with PHACE is the beta blocker propranolol, as long as the blood vessels inside the brain are not too abnormal. Otherwise, rarely, systemic steroids are needed. At Children's Hospital of Philadelphia’s (CHOP) Comprehensive Vascular Anomalies Program (CVAP), the team will offer other treatment options that will be highly individualized, targeting the symptoms and organs involved.

The CHOP difference

Children seen by the CVAP team at CHOP benefit from a multidisciplinary team with extensive experience and deep expertise in the assessment and management of PHACE syndrome. World-class specialists offer comprehensive care tailored to each child’s condition. The CVAP team at CHOP supports patients and their families every step of the way in their journey in managing a diagnosis of PHACE.