Innovative therapeutic strategies for recessive dystrophic epidermolysis bullosInnovative therapeutic strategies for recessive dystrophic epidermolysis bullosa Articles uri icon

publication date

  • May 2015

start page

  • 376

end page

  • 382

issue

  • 5

volume

  • 106

international standard serial number (ISSN)

  • 0001-7310

abstract

  • Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Therapeutic options under development include protein therapy and different cell-based and gene-based therapies. In addition to treating skin defects, some of these therapies may also target internal mucosa. In the coming years, these novel therapeutic approaches should substantially improve the quality of life of patients with RDEB.