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Ocular Complications in PHACE Syndrome: A True Association or a Coincidence?

Liat Samuelov1, Michael Kinori2, Anthony J Mancini3

  • 1Division of Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Dermatology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

The Journal of Pediatrics
|October 2, 2018
PubMed

Insights

Patients with PHACE syndrome and periocular infantile hemangiomas require comprehensive eye exams. Ocular complications, though rare, can be serious, emphasizing the need for vigilance in these cases.

Area of Science:

  • Ophthalmology
  • Pediatrics
  • Genetics

Background:

  • PHACE syndrome is a complex condition involving multiple congenital anomalies.
  • Infantile hemangiomas are common in infants and can occur in various locations.

Purpose of the Study:

  • To evaluate the risk and types of ocular complications in patients diagnosed with PHACE syndrome.
  • To determine the association between infantile hemangioma location and ocular issues in PHACE syndrome.

Main Methods:

  • Retrospective review of consecutive patients with PHACE syndrome from 2000-2017.
  • Comprehensive ophthalmic examinations were performed on all included patients.

Main Results:

  • Twenty-one percent of patients had periocular infantile hemangiomas, leading to ocular complications like ptosis and refractive errors in 9 patients.
  • One patient experienced Horner syndrome, an ocular complication specifically linked to PHACE syndrome.
  • No ocular complications were observed in patients without periocular infantile hemangiomas.

Conclusions:

  • A complete eye examination is crucial for PHACE syndrome patients with periocular infantile hemangiomas.
  • While PHACE syndrome-specific ocular anomalies are uncommon, secondary complications from hemangioma location can be significant.
  • Eye screening may have low yield in PHACE syndrome patients without periocular infantile hemangiomas.
Abstract

Keywords:
PHACE syndromeinfantile hemangiomaocular complications

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