Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis: A report of two cases and review of literature

Antonio A.V. Cruz, Tarciso Schirmbeck, João Monteiro Pina-Neto, Carolina A.R. Funayama

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To describe two patients with encephalocraniocutaneous lipomatosis (ECCL) and to review the literature on this disorder. Methods: Brain and orbit CT scans were performed on two patients with ECCL. Both patients were examined by the same ophthalmologist and neurologist during at least a 2-year follow-up period. Results: Unilateral skull hamartomas, intracranial abnormalities, epibulbar choristomas, and ocular adnexal changes including a specific form of cicatricial upper eyelid retraction were present in both patients. Conclusions: ECCL is a special form of oculocerebrocutaneous disease that has significant adnexal findings that are essential for the diagnosis of this rare disorder.

Original languageEnglish (US)
Pages (from-to)151-155
Number of pages5
JournalOphthalmic plastic and reconstructive surgery
Volume18
Issue number2
DOIs
StatePublished - Jan 1 2002

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

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