Department of Ophthalmology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Jpn J Ophthalmol. 2010 Jan;54(1):15-8. doi: 10.1007/s10384-009-0760-x. Epub 2010 Feb 12.
Epidermal nevus syndrome encompasses a group of congenital neurocutaneous anomalies characterized by epidermal nevi in association with cerebral, ocular, and skeletal abnormalities. We report herein the case of a Japanese girl with epidermal nevus syndrome associated with complex ocular choristoma and discuss the histopathological findings.
A mass lesion was noted on the left eyeball of a newborn Japanese girl. The lesion appeared to be a scleral staphyloma. Linear and diffuse acanthoses were also apparent on the face. Skin biopsy revealed an epidermal nevus. Histopathological examination of the enucleated left eyeball demonstrated that extremely thin sclera adjacent to the corneal limbus resulted in anterior staphyloma, and ectopic osteocartilaginous tissues were present in the posterior sclera.
Epidermal nevus syndrome associated with complex ocular choristoma was diagnosed. The anterior staphylomatous lesion observed in this case has not been reported previously.
表皮痣综合征包括一组先天性神经皮肤异常，其特征是表皮痣与脑、眼和骨骼异常有关。我们在此报告一例日本女孩患有表皮痣综合征合并复杂眼部类癌，并讨论其组织病理学发现。
一名新生日本女孩的左眼眼球上发现一个肿块病变。病变似乎是巩膜葡萄肿。面部也出现线性和弥漫性棘皮病。皮肤活检显示表皮痣。对左眼眼球摘出的组织进行组织病理学检查显示，紧邻角膜缘的极薄巩膜导致前葡萄肿，后巩膜存在异位骨软骨组织。
诊断为合并复杂眼部类癌的表皮痣综合征。本例观察到的前葡萄肿病变以前尚未报道过。
