PHACE Syndrome: The Association of Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities

doi:10.1001/archderm.1996.03890270083012

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Vol. 132 No. 3, March 1996

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PHACE Syndrome

The Association of Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities

Ilona J. Frieden, MD; Vail Reese, MD; Debra Cohen, MD

Arch Dermatol. 1996;132(3):307-311.

Abstract

Background
Large facial hemangiomas can have associated central nervoussystem malformations, particularly the Dandy-Walker posteriorfossa malformations. Abnormal arteries, especially those ofthe central nervous system, coarctation of the aorta, cardiacdefects, and unusual ophthalmologic abnormalities can also occur.

Observations
We describe two patients with large facial hemangiomas, congenitalcataracts, and structural arterial abnormalities, particularlyof the central nervous system vasculature. One of these infantsalso had a Dandy-Walker malformation detected on prenatal ultrasoundat 12 weeks' gestation, suggesting that this syndrome had itsorigin during the first trimester of pregnancy. This infantalso had a lingual thyroid and developed symptomatic hypothyroidism,possibly induced by interferon alfa therapy of her hemangioma.These cases are discussed, along with 41 previously reportedcases with similar findings.

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

(Arch Dermatol. 1996;132:307-311)

Author Affiliations

From the Departments of Dermatology (Dr Frieden and Reese) and Pediatrics (Dr Frieden), University of California, San Francisco; and Department of Pediatrics, Kaiser Permanente Medical Center, San Jose, Calif (Dr Cohen).

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