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Arch Dermatol. 1996 Mar;132(3):307-11.

PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities.

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1
Department of Dermatology, University of California, San Francisco, USA.

Abstract

BACKGROUND:

Large facial hemangiomas can have associated central nervous system malformations, particularly the Dandy-Walker posterior fossa malformations. Abnormal arteries, especially those of the central nervous system, coarctation of the aorta, cardiac defects, and unusual ophthalmologic abnormalities can also occur.

OBSERVATIONS:

We describe two patients with large facial hemangioma, congenital cataracts, and structural arterial abnormalities, particularly of the central nervous system vasculature. One of these infants also had a Dandy-Walker malformation detected on prenatal ultrasound at 12 weeks' gestation, suggesting that this syndrome had its origin during the first trimester of pregnancy. This infant also had a lingual thyroid and developed symptomatic hypothyroidism, possible induced by interferon alfa therapy of her hemangioma. These cases are discussed, along with 41 previously reported cases with similar findings.

CONCLUSIONS:

Large facial hemangiomas may have a distinctive group of associated arterial, central nervous system, and ophthalmologic anomalies. We propose the acronym PHACE syndrome to emphasize the characteristic findings of this neurocutaneous syndrome: posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities.

PMID:
8607636
[Indexed for MEDLINE]

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