Fleming Kristy F, Wu Jashin J, Dyson Senait W, Dadras Soheil S, Metz Brandie J
Department of Internal Medicine, Kaiser Permanente Los Angeles Medical Center, Los Angeles, California, USA.
Dermatol Online J. 2009 Apr 15;15(4):4.
Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens type) (RDEB-HS) is a rare severe mechanobullous disorder resulting from a defect in collagen VII. Patients with RDEB-HS present with generalized blistering and denudation of the skin at birth and have mucosal involvement. The repeated blistering leads to scarring, which may be deforming and result in serious complications. Transmission electron microscopy is currently the gold standard for diagnosis of RDEB-HS.
隐性营养不良性大疱性表皮松解症(Hallopeau-Siemens型)(RDEB-HS)是一种罕见的严重机械性大疱性疾病,由Ⅶ型胶原蛋白缺陷引起。RDEB-HS患者出生时即出现全身性皮肤水疱和剥脱,并伴有黏膜受累。反复出现的水疱会导致瘢痕形成,可能会造成畸形并引发严重并发症。透射电子显微镜检查目前是诊断RDEB-HS的金标准。