Whats is PHACE SYNDROME?
PHACE Syndrome is the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, heart, eyes, skin and/or arteries. It is an acronym that stands for the medical names of the parts of the body it often impacts:
P – Posterior fossa abnormalities and other structural brain abnormalities
H – Hemangioma(s) of the cervical facial region
A – Arterial cerebrovascular anomalies
C – Cardiac defects, aortic coarctation and other aortic abnormalities
E – Eye anomalies
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Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe."
The association of anomalies was first coined by Dr. Ilona Freidan in 1996, making it a relatively new and often unheard of syndrome. A diagnosis is generally made from the physical examination, along with imaging of the head and chest, and an eye examination. PHACE is most commonly diagnosed among female infants. Long-term quality of life varies.
In addition to the obvious visual characteristic (the hemangioma), PHACE Syndrome children sometimes suffer from strokes and seizures – which are generally at their worst when the hemangioma is in its growth phase. That growth phase can last anywhere from 6 to 18 months. Then involution, or healing, of the hemangioma begins. Laser and other surgeries usually are able to make a substantial positive impact on appearance. Long after the hemangioma recedes, any damage it or the other defects caused, may remain. Migraines are common, as are developmental delays.
Signs and Symptoms of PHACE Syndrome
Hemangiomas associated with PHACE Syndrome are usually small or not visible at birth, but are easier to see during the first days to weeks of life. They can grow quite fast. Hemangiomas linked with PHACE Syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.
Cause of PHACE Syndrome
There has been a great deal of research to understand the cause of PHACE Syndrome. The abnormalities associated with this syndrome are thought to be due to errors that occur very early during development. Unfortunately, why the errors occur, or the exact cause is still unknown. PHACE has a shared biology of other vascular anomalies. There may be a genetic component involved and studies are underway to investigate this idea. No familial cases have been identified to date. Research is ongoing to find the cause of all vascular anomalies including PHACE Syndrome. To contribute to that research, please consider making a donation.