Kodsi S R, Bloom K E, Egbert J E, Holland E J, Cameron J D
Department of Ophthalmology, University of Minnesota, Minneapolis 55455-0501.
Am J Ophthalmol. 1994 Jul 15;118(1):77-82. doi: 10.1016/s0002-9394(14)72845-4.
Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome with epibulbar choristomas and connective tissue nevi of the eyelids as common ophthalmic manifestations. Systemic manifestations occur ipsilateral to the ocular lesions and include lipomas of the cranium and central nervous system, alopecia of the scalp, and abnormalities of the central nervous system. We treated a child with encephalocraniocutaneous lipomatosis who required removal of an epibulbar choristoma. Pathologic evaluation of the epibulbar choristoma in our patient showed the presence of ectopic lacrimal gland tissue and cartilage. Encephalocraniocutaneous lipomatosis should be considered, together with Goldenhar's syndrome and sebaceous nevus syndrome, in the differential diagnosis of conditions associated with epibulbar choristomas.
脑颜面皮肤脂肪瘤病是一种先天性神经皮肤综合征，其常见眼科表现为眼球表面的迷芽瘤和眼睑结缔组织痣。全身表现与眼部病变同侧，包括颅骨和中枢神经系统脂肪瘤、头皮脱发以及中枢神经系统异常。我们治疗了一名患有脑颜面皮肤脂肪瘤病的儿童，该患儿需要切除眼球表面的迷芽瘤。对我们患者眼球表面迷芽瘤的病理评估显示存在异位泪腺组织和软骨。在与眼球表面迷芽瘤相关疾病的鉴别诊断中，应考虑脑颜面皮肤脂肪瘤病，以及Goldenhar综合征和皮脂腺痣综合征。
