Encephalocraniocutaneous lipomatosis: Case report and review of the literature

Zina Almer, Victoria Vishnevskia-Dai, David Zadok

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose. Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. Methods. To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. Conclusion. Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.

Original languageEnglish
Pages (from-to)389-390
Number of pages2
JournalCornea
Volume22
Issue number4
DOIs
StatePublished - May 2003

Keywords

  • Bilateral aniridia
  • Bilateral epibulbar lipodermoids
  • Coloboma
  • Encephalocraniocutaneous lipomatosis

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