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

Ophthalmic Plastic and Reconstructive Surgery
Antonio A V CruzCarolina A R Funayama

Abstract

To describe two patients with encephalocraniocutaneous lipomatosis (ECCL) and to review the literature on this disorder. 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. 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. ECCL is a special form of oculocerebrocutaneous disease that has significant adnexal findings that are essential for the diagnosis of this rare disorder.

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Citations

Jan 5, 2013·Pediatric Radiology·Andrea PorettiThierry A G M Huisman
Dec 3, 2003·Journal of Child Neurology·Rafael LasierraAgustín Legido

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