交界性大疱性表皮松解症的全身性萎缩良性型

Generalized atrophic benign form of junctional epidermolysis bullosa.

作者信息

Foldes C, Wallach D, Aubinière E, Vignon-Pennamen M D, Cottenot F

机构信息

Department of Dermatology, Hôpital Saint-Louis, Paris, France.

出版信息

Dermatologica. 1988;176(2):83-90. doi: 10.1159/000248677.

DOI:10.1159/000248677

PMID:2453379

Abstract

There are at least six variants of junctional epidermolysis bullosa (JEB). About 20 cases of the generalized atrophic benign variant of JEB (GABEB) have been previously reported. We present an additional case of GABEB, occurring in a 14-year-old girl. Generalized cutaneous blisters occurred since birth and healed without severe scarring or milia, but with slight atrophy. In addition, mucous membrane involvement and hair, nail and tooth abnormalities were found. Electron microscopic examination showed a cleavage within the lamina lucida and the presence of numerically and structurally abnormal hemidesmosomes.

摘要

交界性大疱性表皮松解症（JEB）至少有六种变体。此前已报道过约20例JEB的全身性萎缩性良性变体（GABEB）。我们报告了另外一例GABEB，发生在一名14岁女孩身上。自出生以来即出现全身性皮肤水疱，愈合后无严重瘢痕或粟丘疹，但有轻微萎缩。此外，还发现有黏膜受累以及毛发、指甲和牙齿异常。电子显微镜检查显示透明层内有分裂，且存在数量和结构异常的半桥粒。