PHACE Syndrome | Diagnosis & Treatments

How we diagnose PHACE syndrome

There is no single test that can determine whether or not a child has PHACE. Rather, doctors make a diagnosis of PHACE based on:

  • physical examination
  • medical history
  • eye exam
  • echocardiogram
  • magnetic resonance imaging (MRI) of the brain and magnetic resonance angiogram (MRA) of the head and neck

These tests may involve a number of clinicians from several different medical specialties (e.g., pediatric cardiology, pediatric ophthalmology, pediatric otolaryngology [an ear/nose/throat doctor], pediatric neurology, pediatric vascular anomalies, pediatric dermatology, pediatric neuroradiology).

Together, these tests look for signs of the major and minor criteria of PHACE. Depending on the combination of symptoms and abnormalities the tests reveal, a child may be diagnosed with:

  • PHACE: A child is definitely diagnosed with PHACE if she has a large (greater than 5 centimeters wide) regional or segmental hemangioma on the neck, face, or scalp plus either one major or two minor criteria.
  • Possible PHACE: A child is diagnosed with possible PHACE if she has:
    • a large (greater than 5 centimeters wide) segmental hemangioma on the neck, face, or scalp and one minor criterion OR
    • a hemangioma on her neck or upper torso plus either one major criterion or two minor criteria OR
    • two major criteria without a hemangioma

The treatment of a child with PHACE will depend on the combination of criteria and their severity.

At Boston Children's, testing and diagnosis of children with PHACE is coordinated through the Vascular Anomalies Center.

How we treat PHACE syndrome

The treatment of children with PHACE is highly personalized based on the severity of the condition and the problems associated with it. Because the condition can affect so many different parts of the body, children with PHACE often see clinicians and specialists from several medical fields.

Our Vascular Anomalies Center brings together specialists from across the hospital to take a coordinated approach in caring for children with PHACE. Depending on an individual child's needs, this could include:

  • dermatologists and plastic surgeons to monitor and, if necessary, treat a hemangioma
  • cardiologists and cardiovascular surgeons to manage congenital heart defects
  • cerebrovascular surgeons and neurointerventional radiologists to address blood vessel anomalies in the brain
  • endocrinologists to monitor and care for endocrine problems
  • neurologists and neurosurgeons to care for brain abnormalities
  • ophthalmologists to treat eye anomalies
  • orthopedic surgeons to repair defects in the sternum

Because PHACE as a diagnosis is still relatively new and can vary from child to child, no one yet knows what the long-term outlook is for children with PHACE.

Helpful links

Please note that neither Boston Children's Hospital nor the Vascular Anomalies Center at Boston Children's unreservedly endorses all of the information found on the sites below. These links are provided as a resource: