PHACE Syndrome

Hemangiomas associated with PHACE syndrome may be small or not visible at birth, but they typically grow quickly and become apparent during the first days to weeks of life. Hemangiomas linked with PHACE syndrome are called “segmental hemangiomas” and tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.

Signs and symptoms depend on the different combination of abnormalities associated with PHACE syndrome. Severity of symptoms and complications also varies, even between individuals with the same combination of abnormalities.

If a hemangioma looks suspicious for PHACE syndrome, testing is needed to confirm or rule out the diagnosis. 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 eye doctor
• Hearing test

 Other tests may be needed for diagnosis and treatment.

As it grows, the hemangioma can lead to skin breakdown (ulcerations), distort facial features or cause issues with vital functions, such as breathing, vision and hearing.

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

Usually the hemangiomas in PHACE syndrome require medical therapy. The child may also need other treatments, depending on which other organs or structures are involved.

PHACE syndrome requires evaluation and treatment by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology and neurosurgery may need to be involved. Routine follow-up is necessary to watch for complications and to monitor development, particularly through the school-age period.