Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
J Dermatol. 2010 Mar;37(3):214-9. doi: 10.1111/j.1346-8138.2009.00800.x.
Epidermolysis bullosa (EB) is classified into major types - EB simplex (EBS), junctional EB (JEB) and dystrophic EB (DEB) - on the basis of the level of tissue separation within the cutaneous basement membrane zone. Recent advances in research on EB have led to the identification of 10 genes responsible for EB. The Japanese Ministry of Health, Labor and Welfare has designated JEB and DEB, but not EBS, as specified diseases. However, EBS has a lethal variant and should also be registered as a specified disease. In the Third Consensus Meeting on the Diagnosis and Classification of EB held in Vienna in 2007, it was recommended that Kindler syndrome should be classified as a subtype of EB. Corrective gene therapy is the most ideal therapy for EB, but much more research is required before it can be developed and used in clinical practice. Cell-based therapies using fibroblasts and bone marrow cells have recently attracted considerable attention.
大疱性表皮松解症(EB)根据皮肤基底膜带组织分离的水平分为主要类型 - 单纯型 EB(EBS)、交界型 EB(JEB)和营养不良型 EB(DEB)。最近对 EB 的研究进展导致了 10 个基因负责 EB 的鉴定。日本厚生劳动省指定 JEB 和 DEB 为特定疾病,但不包括 EBS。然而,EBS 有一种致命的变体,也应该被登记为特定疾病。在 2007 年维也纳举行的第三次 EB 诊断和分类共识会议上,建议将 Kindler 综合征归类为 EB 的一个亚型。纠正基因治疗是 EB 最理想的治疗方法,但在开发和应用于临床实践之前,还需要进行更多的研究。最近,使用成纤维细胞和骨髓细胞的细胞疗法引起了相当大的关注。