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[反向营养不良型大疱性表皮松解症:一篇综述及病例报告]

[Epidermolysis bullosa dystrophica inversa, a review and case report].

作者信息

Breit R

出版信息

Hautarzt. 1979 Sep;30(9):471-7.

PMID:231590
Abstract

An additional case of epidermolysis bullosa dystrophica inversa is reported. A review of the literature shows that until now reports about probably 15 patients from seven families were published, although the first 13 patients were not investigated by electron microscope [3]. By blistering beneath the basal lamina similar to the Hallopeau-Siemens type these patients develop bullae predominantly at the trunk and the inverse sites of the axillar and genitoanal regions continuously or at close intervals starting shortly after birth. The mucous membranes of the mouth, the esophagus, and the cornea and conjunctiva of the eye are very often involved. By bacterial infection of the skin lesions the patients develop hpochrome anemia. The web-like structures in the esophagus following blistering can be successfully treated by careful dilatation because of the low tendency to scar formation. An autosomal recessive mode of inheritance seems to be most likely.

摘要

报告了1例反向营养不良型大疱性表皮松解症的额外病例。文献综述表明,截至目前,尽管最初的13例患者未进行电子显微镜检查,但已发表了来自7个家族的约15例患者的报告[3]。这些患者在基底膜下形成水疱,类似于Hallopeau-Siemens型,主要在躯干以及腋窝和生殖器肛门区域的反向部位持续或在出生后不久开始以紧密间隔出现大疱。口腔、食管以及眼的角膜和结膜的黏膜常受累。由于皮肤病变的细菌感染,患者出现低色素性贫血。食管水疱形成后的网状结构因瘢痕形成倾向低,通过仔细扩张可成功治疗。常染色体隐性遗传模式似乎最有可能。

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