Overview of epidermolysis bullosa
Overview of epidermolysis bullosa
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DOI：
10.1111/j.1346-8138.2009.00800.x
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发表时间：
2010-03-01
影响因子：
3.1
通讯作者：
Matsuzaki, Yasushi
中科院分区：
文献类型：
--
作者：
Sawamura, Daisuke;Nakano, Hajime;Matsuzaki, Yasushi
根据皮肤基底膜区组织分离的程度，大疱性表皮病（EB）可分为单纯型EB（EBS）、交界型EB（JEB）和营养不良型EB（DEB）。EB研究的最新进展已经鉴定出10个与EB相关的基因。日本厚生劳动省已将JEB和DEB指定为特定疾病，但未将EBS指定为特定疾病。然而，EBS具有致命性变异，也应该作为指定疾病登记。2007年在维也纳召开的第三届EB诊断和分类共识会议建议将Kindler综合征列为EB的一个亚型。纠正性基因治疗是EB最理想的治疗方法，但在其开发和应用于临床实践之前，还需要进行更多的研究。使用成纤维细胞和骨髓细胞的基于细胞的疗法最近引起了相当大的关注。
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.