Current topics in Epidermolysis bullosa: Pathophysiology and therapeutic challenges

Ken Natsuga, Satoru Shinkuma, Chao Kai Hsu, Yasuyuki Fujita, Akira Ishiko, Katsuto Tamai, John A. McGrath

研究成果: Review article同行評審

摘要

Epidermolysis bullosa (EB) is a group of inherited skin and mucosal fragility disorders resulting from mutations in genes encoding basement membrane zone (BMZ) components or proteins that maintain the integrity of BMZ and adjacent keratinocytes. More than 30 years have passed since the first causative gene for EB was identified, and over 40 genes are now known to be responsible for the protean collection of mechanobullous diseases included under the umbrella term of EB. Through the elucidation of disease mechanisms using human skin samples, animal models, and cultured cells, we have now reached the stage of developing more effective therapeutics for EB. This review will initially focus on what is known about blister wound healing in EB, since recent and emerging basic science data are very relevant to clinical translation and therapeutic strategies for patients. We then place these studies in the context of the latest information on gene therapy, read-through therapy, and cell therapy that provide optimism for improved clinical management of people living with EB.

原文English
頁(從 - 到)164-176
頁數13
期刊Journal of Dermatological Science
104
發行號3
DOIs
出版狀態Published - 2021 12月

All Science Journal Classification (ASJC) codes

  • 生物化學
  • 分子生物學
  • 皮膚科

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