PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review

Ophthalmology. 1999 Sep;106(9):1739-41. doi: 10.1016/S0161-6420(99)90350-0.


Objectives: 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.

Design: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Abnormalities, Multiple / therapy
  • Brain / abnormalities
  • Cardiovascular Abnormalities / pathology*
  • Cardiovascular Abnormalities / therapy
  • Cranial Fossa, Posterior / abnormalities*
  • Eye Abnormalities / pathology*
  • Eye Abnormalities / therapy
  • Facial Neoplasms / pathology*
  • Facial Neoplasms / therapy
  • Female
  • Fundus Oculi
  • Glaucoma / congenital*
  • Glaucoma / surgery
  • Hemangioma, Capillary / pathology*
  • Hemangioma, Capillary / therapy
  • Humans
  • Infant
  • Interferon-alpha / therapeutic use
  • Intraocular Pressure
  • Magnetic Resonance Imaging
  • Syndrome


  • Interferon-alpha