PHACE Syndrome: Symptom, Diagnosis

Overview

PHACE syndrome is a cutaneous condition. It refers to the association of a large hemangioma in combination with one or more abnormalities.

Generally, it presents with:

  • Posterior fossa brain malformations,
  • Hemangiomas,
  • Arterial lesions,
  • Cardiac abnormalities
  • Eye abnormalities.

Other common names for the condition include:

  • PHACE association
  • PHACES association
  • Posterior fossa brain malformations
  • hemangiomas of the face
  • arterial anomalies
  • cardiac anomalies
  • eye abnormalities

 

Symptom

Patients with PHACE syndrome may experience some of following symptoms:

  • hemangiomas
  • anomalies of the aortic arch
  • narrowing, abnormal growth, or absence of a major cerebral artery
  • presence of the trigeminal artery, an important artery that supplies the brain with nutrients during fetal development, as well as others after birth
  • abnormalities of the cerebellum
  • blood clots in the blood vessels around the heart and brain
  • abnormal structure of the back of the eye
  • abnormal sternum
  • gaps in the wall between the left and right ventricles of the heart
  • anomalies of the pituitary and thyroid glands

 

Cause

There is no clear and exact cause of PHACE syndrome. It may result from:

  • postzygotic somatic mosaic mutation
  • mutation on autosomal chromosome
  • genetic factors
  • environmental factors

 

Diagnosis

The diagnosis of PHACE syndrome can be confirmed or ruled out by the following tests:

  • ultrasound
  • magnetic resonance imaging (MRI)
  • magnetic resonance angiography of the brain (MRA)
  • echocardiogram (echo) or electrocardiogram (EKG) of the heart
  • eye exam
  • hearing test

 

Treatment

Treatment options depend on the involved organs or structures, so it usually needs a collaboration of many medical professionals, such as dermatologists, ophthalmologists, cardiologists and so on.

Medical therapy is the most commonly required. Please consult experts for the most suitable treatment options.

 

Keywords: PHACE syndrome.

 

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.