Cruz Antonio A V, Schirmbeck Tarciso, Pina-Neto João Monteiro, Funayama Carolina A R
Department of Ophthalmology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Ophthalmic Plast Reconstr Surg. 2002 Mar;18(2):151-5. doi: 10.1097/00002341-200203000-00012.
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.
描述两例脑颅皮肤脂肪瘤病（ECCL）患者，并复习有关该疾病的文献。
对两例ECCL患者进行脑部和眼眶CT扫描。在至少2年的随访期内，两位患者均由同一位眼科医生和神经科医生进行检查。
两名患者均出现单侧颅骨错构瘤、颅内异常、眼球表面迷芽瘤以及眼附属器改变，包括一种特殊形式的瘢痕性上睑退缩。
ECCL是眼脑皮肤疾病的一种特殊形式，具有重要的附属器表现，这对诊断这种罕见疾病至关重要。
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