Kang Gyo Shin, Ko Woo Tae, Kim Jae Hong, Choi Sung Min, Kim Ae Suk, Kim Dong Hoon, Suh Moo Kyu
Department of Dermatology, College of Medicine, Dongguk University, Gyeongju, Korea.
Ann Dermatol. 2009 Feb;21(1):49-52. doi: 10.5021/ad.2009.21.1.49. Epub 2009 Feb 28.
Dystrophic epidermolysis bullosa (DEB) is a rare group of heritable mechanobullous disorders that are characterized by blistering and scarring of the skin and mucosae and these lesions are induced by minor trauma, DEB is also associated with nail dystrophy. DEB can be inherited either in an autosomal recessive or dominant fashion. Regardless of the mode of inheritance, DEB is caused by defects of the ultrastructural entity known as the anchoring fibril, which results in separation of the sublamina densa. Recessive DEB (RDEB) is classified into Hallopeau-Siemens and non-Hallopeau-Siemens. We herein report on a case of non-Hallopeau-Siemens RDEB and there was no family history of this malady, and we present the clinical, histological and electron microscopy findings.
营养不良性大疱性表皮松解症(DEB)是一组罕见的遗传性机械性大疱性疾病,其特征是皮肤和黏膜出现水疱和瘢痕形成,这些病变由轻微创伤诱发,DEB还与甲营养不良有关。DEB可通过常染色体隐性或显性方式遗传。无论遗传方式如何,DEB都是由称为锚定原纤维的超微结构实体缺陷引起的,这会导致致密下层分离。隐性DEB(RDEB)分为Hallopeau-Siemens型和非Hallopeau-Siemens型。我们在此报告一例无家族病史的非Hallopeau-Siemens型RDEB病例,并展示其临床、组织学和电子显微镜检查结果。