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超越痣的搜索——神经皮肤眼综合征的罕见病例。

Searching beyond nevi - A rare case of neurocutaneous ocular syndrome.

机构信息

Department of Orbit and Oculoplasty, Aravind Eye Hospital and PG Institute of Ophthalmology, Madurai, India.

出版信息

Orbit. 2023 Oct;42(5):553-557. doi: 10.1080/01676830.2022.2049609. Epub 2022 Mar 17.

Abstract

Epidermal nevus syndrome is a rare congenital disorder affecting only a few hundred people in the world. It has ophthalmic, dermatological, and neurological manifestations, with varied presentation. Here, we report a case of two-year-old child who presented with epibulbar mass in left eye, pigmented nevi over left side of the body and alopecia over left side of parieto-temporal scalp. Imaging confirmed epibulbar mass and presence of calcification of choroid on ipsilateral side with presence of arachnoid cyst of brain with underlying pachygyria. Neurological examination was normal and dermatologist confirmed presence of verrucous nevi over skin. Excisional biopsy of epibulbar mass revealed a complex choristoma with presence of lacrimal gland tissue. Underlying ocular findings were near normal with normal posterior segment. It is a rare form of epidermal nevus syndrome with near normal ocular findings in the presence of anterior and posterior choristoma, which has not been reported.

摘要

表皮痣综合征是一种罕见的先天性疾病,全世界仅有数百人受其影响。它具有眼部、皮肤和神经方面的表现,表现多样。在此,我们报告一例两岁患儿,其左眼出现眼球突出物,身体左侧有色素痣,顶颞部头皮左侧有脱发。影像学检查证实了左眼眼球突出物和同侧脉络膜钙化的存在,同时存在蛛网膜囊肿和脑回增厚。神经科检查正常,皮肤科医生证实皮肤有疣状痣。眼球突出物的切除活检显示为具有泪腺组织的复杂类瘤。眼部的后续检查结果基本正常,后节正常。这是一种罕见的表皮痣综合征,在存在前、后脉络膜类瘤的情况下,眼部表现接近正常,目前尚未有报道。

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