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遗传性大疱性表皮松解症结膜的电子显微镜观察

[Electron microscopic observations of the conjunctiva in epidermolysis bullosa hereditaria].

作者信息

Inoue N, Takahashi H, Akiya S, Kirihara Y, Yamamoto O, Kiryu H

机构信息

Department of Ophthalmology, University of Occupational and Environmental Health, Fukuoka-ken, Japan.

出版信息

Nippon Ganka Gakkai Zasshi. 1998 Jul;102(7):447-54.

PMID:9720367
Abstract

A 35-year-old female had been clinically diagnosed as having epidermolysis bullosa hereditaria since her skin formed blisters from the time of her birth. Her left and right corneas become clouded at the age of 17 and 31 years, respectively. She was diagnosed as having bilateral secondary glaucoma at the age of 31 years and was medicated with antiglaucoma drugs. When examined by us, both corneas were invaded by conjunctival tissues and intraocular pressure in both eyes was 38 mmHg. Visual acuity was 0.09 (n.c.) in the right eye and she had no light perception in the left eye. A trabeculectomy OD was performed at our hospital. For confirmatory diagnosis, a pathological examination of the conjunctival and dermal tissues was done. Electron microscopic study demonstrated blister formation beneath the basal lamina and lost anchoring fibrils of both tissues. This finding confirmed that she had a receive form of dystrophic epidermolisis bullosa. This is a rare case of dystrophic epidermolisis bullosa with severe corneal changes and glaucoma diagnosed from electron microscopic observations.

摘要

一名35岁女性自出生时皮肤就起水疱,临床诊断为遗传性大疱性表皮松解症。她的左右眼角膜分别在17岁和31岁时出现混浊。她在31岁时被诊断为双侧继发性青光眼,并接受了抗青光眼药物治疗。我们检查时,双眼角膜均被结膜组织侵犯,双眼眼压均为38 mmHg。右眼视力为0.09(手动),左眼无光感。我院对右眼实施了小梁切除术。为明确诊断,对结膜和皮肤组织进行了病理检查。电子显微镜研究显示,基底层下方形成水疱,且两种组织的锚原纤维缺失。这一发现证实她患有营养不良型大疱性表皮松解症的隐性形式。这是一例罕见的营养不良型大疱性表皮松解症,通过电子显微镜观察诊断出伴有严重角膜病变和青光眼。

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