Health Library

PHACE Syndrome

PHACE syndrome happens when large infantile hemangiomas of the face, head and/or neck are associated with problems with the eyes, heart, major arteries and brain. The cause of PHACE syndrome is unknown. PHACE stands for:

P = Posterior fossa (This refers to possible abnormal structures in the brain, particularly the cerebellum.)
H = Hemangioma
A = Arterial (This refers to possible unusual arteries in the brain, neck or chest.)
C = Cardiac (This refers to possible heart defects or abnormalities of the large blood vessels connected to the heart.)
E = Eyes (This refers to possible eye or vision issues.)

Infants with PHACE syndrome may have one or more of these problems, in addition to the hemangioma. Rarely, children may have an abnormal sternum (breastbone) or hypothyroidism (low thyroid hormone).

What are the Signs and Symptoms of PHACE Syndrome?

Hemangiomas may be small or not visible at birth. They grow quickly and can be seen during the first days to weeks of life. In children with PHACE syndrome, hemangiomas usually cover a large area of the face, head or neck. They can appear as one lesion or a patch of multiple lesions. Other problems may be visible at birth, such as breastbone deformity. Rarely, children with large hemangiomas on their arm and/or upper trunk may also have PHACE syndrome.

Signs and symptoms vary. Severity of symptoms and complications also varies.

How is PHACE Syndrome Diagnosed?

If a hemangioma looks suspicious for PHACE syndrome, additional testing is needed.

These tests may include:

• Ultrasound
• Magnetic resonance imaging (MRI)
• Magnetic resonance angiography of the brain (MRA)
• Echocardiogram (echo) or electrocardiogram (EKG) of the heart
• Eye exam by an ophthalmologist (eye doctor)
• Hearing test

Other tests may be needed.

What are the Possible Complications of PHACE Syndrome?

s it grows, the hemangioma can lead to skin breakdown (ulcerations), changes in facial features and/or cause issues with breathing, eyesight or hearing.

Other complications depend on what structures other than the skin are involved. For example, developmental delay, seizures, headaches, and/or abnormal muscle tone could happen if the brain is involved.

How is PHACE Syndrome Treated?

Usually the hemangioma(s) in PHACE syndrome require medication by mouth or on the skin. These medications are used to stop hemangioma growth. They also treat and/or prevent complications. Surgical treatments could also be needed.

How is PHACE Syndrome Managed?

PHACE syndrome needs evaluation and treatment by a team of experts. Routine follow up is important.