PHACE_syndrome
PHACE syndrome
Congenital condition of brain, cardiovascular and eye abnormalities
PHACE syndrome is a medical condition involving the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, heart, eyes, skin and/or arteries. PHACE is an acronym that stands for the medical names of the parts of the body it often impacts:
- Posterior fossa abnormalities and other structural brain abnormalities.
- Hemangioma(s) of the cervical facial region.
- Arterial cerebrovascular anomalies.
- Cardiac defects, aortic coarctation and other aortic abnormalities.
- Eye anomalies.[2]
Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe." PHACE syndrome may affect infants with large plaque-type facial hemangiomas.[3] Children who present this skin condition should receive careful ophthalmologic, cardiac, and neurologic assessment. According to one study of infants with large hemangiomas, one-third have symptoms consistent with the diagnosis of PHACE syndrome. The most common are cerebrovascular and cardiovascular anomalies.[4]