A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab

J Dermatolog Treat. 2023 Dec;34(1):2253943. doi: 10.1080/09546634.2023.2253943. Epub 2023 Nov 15.

Abstract

Inherited epidermolysis bullosa is a heterogeneous group of hereditary skin diseases characterized by skin (mucosa) fragility, which leads to blistering. Junctional epidermolysis bullosa is associated with mutations in genes expressing proteins of the dermo-epidermal junction. Dupilumab, an antibody that directly targets interleukin (IL)-4 receptor alpha, may be an effective treatment for dystrophic epidermolysis bullosa. We describe a case of junctional epidermolysis bullosa that improved with dupilumab.

Keywords: COL17A14; Junctional epidermolysis bullosa1; dupilumab2; itch5; pruritus6; treatment3.

Publication types

  • Case Reports

MeSH terms

  • Collagen Type XVII
  • Epidermolysis Bullosa Dystrophica* / drug therapy
  • Epidermolysis Bullosa Dystrophica* / genetics
  • Epidermolysis Bullosa* / genetics
  • Epidermolysis Bullosa, Junctional* / drug therapy
  • Epidermolysis Bullosa, Junctional* / genetics
  • Humans
  • Non-Fibrillar Collagens
  • Skin / metabolism

Substances

  • dupilumab
  • Non-Fibrillar Collagens