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

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.