PHACE Syndrome

Most hemangiomas of infancy are not serious and require little or no treatment. However, a small group of children with facial hemangiomas can have other problems. PHACE syndrome may be suspected in infants with large hemangiomas on the face, head, and/or neck.

PHACE stands for:

P = Posterior fossa. This refers to possible abnormal structures in the brain, especially the cerebellum

H = Hemangioma

A = Arterial. This refers to possible abnormal arteries in the brain

C = Cardiac. This refers to possible heart abnormalities

E = Eyes. This refers to possible eye abnormalities

There can also be abnormalities in the sternum (breastbone) or thyroid of the infant.

Infants diagnosed with PHACE syndrome may only have one or two of these abnormalities.

The cause of PHACE syndrome is unknown. However, it is:

  • Not related to drugs or medications taken during pregnancy
  • Not related to being exposed to things in the environment during pregnancy

Hemangiomas associated with PHACE syndrome are usually small or not there at birth, but are easier to see during the first days to weeks of life. They can grow quite fast. Hemangiomas linked with PHACE syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.

If the medical history and the actual exam of the hemangioma look typical for PHACE syndrome, more tests are ordered to confirm the diagnosis. These tests may include:

  • Ultrasound
  • Magnetic resonance imaging (MRI)
  • Magnetic resonance angiography of the brain (MRA)
  • Echocardiogram of the heart
  • Eye exam by an eye doctor

Other tests may be needed for diagnosis and treatment.

As it grows, the hemangioma can break down skin, distort facial features or get in the way of other vital functions, such as breathing, vision, and hearing. Other complications will depend on what other structures are involved. If the brain is involved, these could include:

  • Developmental delay
  • Seizures
  • Headaches
  • Abnormal muscle tone

PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The team of experts pays close attention to how these children develop throughout the school age period.

Usually the hemangioma requires medical therapy. The child may need other therapies, depending on what other organs or structures are involved.