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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)164-176
Number of pages13
JournalJournal of Dermatological Science
Issue number3
Early online date13 Dec 2021
Publication statusPublished - Dec 2021


  • Cell therapy
  • Epidermolysis bullosa
  • Gene therapy
  • Stem cell
  • Wound healing


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