Testing & Diagnosis for PHACE in Children

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How is PHACE syndrome diagnosed?

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 (see Signs & Symptoms). 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.

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