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PHACE association : ウィキペディア英語版
PHACES Syndrome

Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome (also known as "PHACE Syndrome") is a cutaneous condition characterized by multiple congenital abnormalities.
PHACE syndrome should be considered in infants with large plaque-type facial hemangiomas. Children presenting with this dermatologic manifestation should receive careful ophthalmologic, cardiac, and neurologic assessment.
According to one study in infants with large hemagiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome. The most common are cerebrovascular and cardiovascular anomalies.
==Overview==

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:
*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

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〔http://profiles.ucsf.edu/ilona.frieden〕 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.

Hemangioma 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.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「PHACES Syndrome」の詳細全文を読む



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