Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa

Pediatr Res. 2018 Jan;83(1-2):318-324. doi: 10.1038/pr.2017.244. Epub 2017 Nov 1.


Epidermolysis bullosa is classified as a genodermatosis, an inherited genetic skin disorder that results in severe, chronic skin blistering with painful and life-threatening complications. Although there is currently no cure for epidermolysis bullosa, concurrent advances in gene and stem cell therapies are converging toward combinatorial therapies that hold the promise of clinically meaningful and lifelong improvement. Recent studies using hematopoietic stem cells and mesenchymal stromal/stem cells to treat epidermolysis bullosa have demonstrated the potential for sustained, effective management of the most severe cases. Furthermore, advances in the use of gene therapy and gene-editing techniques, coupled with the development of induced pluripotent stem cells from patients with epidermolysis bullosa, allow for autologous therapies derived from a renewable population of cells that are patient-specific. Here we describe emerging treatments for epidermolysis bullosa and other genodermatoses, along with a discussion of their benefits and limitations as effective therapies.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • CRISPR-Cas Systems
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / therapy*
  • Gene Editing
  • Genes, Recessive
  • Genetic Therapy / methods*
  • Humans
  • Keratinocytes / cytology
  • Mice
  • Regenerative Medicine / methods*
  • Skin / metabolism
  • Stem Cell Transplantation / methods*
  • Stem Cells / cytology
  • Wound Healing