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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