KYOTO, JAPAN — The distribution of large facial hemangiomas appears to be helpful in identifying infants at risk for PHACES syndrome, according to a first-of-its-kind multicenter prospective study.
PHACES, also known as Online Mendelian Inheritance in Man #606519, is an acronym for a rare neurocutaneous disorder characterized by the following:
▸ Posterior fossa anomalies.
▸ Hemangioma.
▸ Arterial abnormalities.
▸ Cardiac and aortic arch defects.
▸ Eye abnormalities.
▸ Sternal cleft anomalies.
Thus far in the ongoing study by the Hemangioma Investigator Group, 58 children with segmental facial hemangiomas in excess of 22 cm2 have been fully evaluated by physical examination, MRI and MR angiography of the head and neck, echocardiography, and ophthalmologic examination.
Of that total number of children, 38 (66%) met diagnostic criteria for PHACES, which requires at least one of the defects in the acronym in addition to the infantile facial hemangioma, Dr. Ilona J. Frieden.
This is the first-ever prospective study to comprehensively evaluate children with large facial hemangiomas for PHACES. The goal is to determine the incidence in an at-risk population and learn whether hemangioma distribution correlates with the location of extracutaneous manifestations, according to Dr. Frieden, director of pediatric dermatology at the University of California, San Francisco.
Of the 38 patients with PHACES, 27 had cardiac defects, 22 had central nervous system anomalies, and 10 had other defects, Dr. Frieden reported at the meeting of the European Society for Dermatological Research, the Japanese Society for Investigative Dermatology, and the Society for Investigative Dermatology.
Although study enrollment continues, the preliminary evidence indicates that the location of large segmental facial hemangiomas does indeed correlate with the site of PHACES structural anomalies, said Dr. Frieden.
Segmental hemangiomas are lesions occurring over a specific anatomic territory corresponding to a recognizable embryologic/developmental segment.
For example, hemangiomas located in segment 1 (the frontotemporal segment) proved to be associated with the highest rate of CNS anomalies, she said.
Of 17 patients with hemangiomas in segment 1 with or without involvement of other segments, 15 had PHACES—and 9 of these 15 had CNS anomalies.
PHACES was present in only 7 of 16 patients whose hemangioma involved segment 2 (the maxillary prominence) and segment 3 (the mandibular prominence), but with sparing of segment 1, continued Dr. Frieden. Four of those patients had CNS abnormalities.
Five patients had hemangiomas limited to segment 1; all five had PHACES. Four of the five patients had CNS and/or cerebrovascular anomalies, two had cardiac abnormalities, and one had another PHACES defect.
Among 12 patients with hemangiomas restricted to segment 3, 9 had PHACES. Two of the nine had CNS and/or cerebrovascular anomalies and seven had cardiac defects.
Hemangiomas confined to segment 2 had the lowest risk for associated PHACES, said Dr. Frieden.
Only two of eight patients whose hemangiomas were restricted to that segment met criteria for PHACES. One of the two had a CNS anomaly, neither had a cardiac anomaly, and both had other PHACES defects, she reported.
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