WILLIAMSBURG, VA. — A segmental plaquelike facial hemangioma should be a tip-off to evaluate an infant for PHACES syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, eye abnormalities, sternal defects), Dr. Sharon A. Glick said at a meeting sponsored by Skin Disease Education Foundation.
To date, there have been about 200 case reports of PHACES syndrome, with a “strikingly female preponderance,” said Dr. Glick, director of pediatric dermatology at the State University of New York Downstate Medical Center in New York. The female to male ratio is 9:1.
Most patients (70%) have only one extracutaneous manifestation. “You do not need to have all the findings, you just need one extracutaneous. Of course, the common feature is a segmental plaquelike facial hemangioma,” she said.
In a recently published prospective study, 25 out of 1,096 children seen with infantile hemangioma met the criteria for PHACES syndrome in 1 year—a 2.3% incidence. Of the 127 infants with segmental type facial infantile hemangioma, 25 had PHACES sydrome—a 20% incidence (Am. J. Med. Genet. 2006;140A:975–86).
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