PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review.
OBJECTIVE
To introduce PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities) to the ophthalmologic literature; to report the first case of PHACE syndrome associated with congenital glaucoma; and to review the ocular and systemic findings that may occur in this entity.


METHODS
Case report and literature review.


METHODS
The authors report a child with PHACE syndrome and congenital glaucoma and review the ophthalmologic and systemic manifestations of this syndrome.


RESULTS
A 9-month-old girl with PHACE syndrome was treated. She had a large right facial hemangioma, central nervous system (CNS) abnormalities, and cardiac anomalies. Glaucoma was detected in her left eye, and she underwent glaucoma surgery. She did well following two glaucoma procedures, and the facial hemangioma is responding to medical treatment.


CONCLUSIONS
Ophthalmologists who examine children with large facial hemangiomas should consider PHACE syndrome in the differential diagnosis and should obtain appropriate CNS imaging studies and cardiac evaluation when the diagnosis is suspected. Congenital glaucoma should be added to the list of PHACE-associated ocular anomalies.
Coats
D K
DK
Department of Ophthalmology, Baylor College of Medicine, Texas Children's Hospital, Houston 77030, USA. dcoats@bcm.tmc.edu
Paysse
E A
EA
Levy
M L
ML
D000015:Abnormalities, Multiple / Q000473:pathology* / Q000628:therapy; D001921:Brain / Q000002:abnormalities; D018376:Cardiovascular Abnormalities / Q000473:pathology* / Q000628:therapy; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000473:pathology* / Q000628:therapy; D005153:Facial Neoplasms / Q000473:pathology* / Q000628:therapy; D005260:Female; D005654:Fundus Oculi; D005901:Glaucoma / Q000151:congenital* / Q000601:surgery; D018324:Hemangioma, Capillary / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007223:Infant; D016898:Interferon-alpha / Q000627:therapeutic use; D007429:Intraocular Pressure; D008279:Magnetic Resonance Imaging; D013577:Syndrome
D016898:Interferon-alpha