Fine J D, Bauer E A, Briggaman R A, Carter D M, Eady R A, Esterly N B, Holbrook K A, Hurwitz S, Johnson L, Lin A
Department of Dermatology, University of North Carolina School of Medicine, Chapel Hill.
J Am Acad Dermatol. 1991 Jan;24(1):119-35. doi: 10.1016/0190-9622(91)70021-s.
Inherited epidermolysis bullosa encompasses a number of diseases, with the common finding of blister formation after minor mechanical trauma to the skin. In some forms significant, if not eventually fatal, extracutaneous disease activity may occur. In recent years application of newer technologies has contributed substantially to an overall understanding of this collection of inherited diseases. Concurrently, many new phenotypes have been recognized, in part the result of ongoing prospective patient registries in the United States and abroad. Unfortunately, this has resulted in a massive literature that may appear to be confounded by seemingly excessive or arbitrary subdivision of epidermolysis bullosa variants. With these concerns in mind a subcommittee was established by the National Epidermolysis Bullosa Registry to summarize the current literature and to make recommendations as to the best clinical and laboratory criteria for the practical diagnosis and subclassification of patients with inherited epidermolysis bullosa.
遗传性大疱性表皮松解症包括多种疾病,其共同特征是皮肤受到轻微机械创伤后会形成水疱。在某些类型中,可能会出现严重的(即使最终不致命)皮肤外疾病活动。近年来,新技术的应用极大地促进了对这一系列遗传性疾病的全面了解。与此同时,许多新的表型已被识别出来,部分原因是美国和国外正在进行的前瞻性患者登记。不幸的是,这导致了大量的文献,这些文献可能因大疱性表皮松解症变体看似过度或随意的细分而显得混乱。考虑到这些问题,国家大疱性表皮松解症登记处成立了一个小组委员会,以总结当前的文献,并就遗传性大疱性表皮松解症患者的实际诊断和亚分类的最佳临床和实验室标准提出建议。