Generalized eczematous dermatitis and pruritus responsive to dupilumab in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

Pediatr Dermatol. 2021 Sep;38(5):1370-1371. doi: 10.1111/pde.14717. Epub 2021 Jul 16.

Abstract

This case describes a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome with diffuse eczematous dermatitis and severe, intractable pruritus. Despite a bone marrow transplant and immunosuppressive therapy, his skin findings and pruritus persisted. Off-label dupilumab provided significant improvement and almost complete clearance of the dermatitis and pruritus. This is the first known report of dupilumab being used in a patient with IPEX syndrome.

Keywords: IPEX; dupilumab; eczema; eczematous dermatitis.

MeSH terms

  • Antibodies, Monoclonal, Humanized
  • Dermatitis, Atopic* / drug therapy
  • Dermatitis, Atopic* / genetics
  • Diabetes Mellitus, Type 1 / congenital
  • Diarrhea
  • Eczema* / drug therapy
  • Eczema* / genetics
  • Forkhead Transcription Factors / genetics
  • Genetic Diseases, X-Linked* / drug therapy
  • Genetic Diseases, X-Linked* / genetics
  • Humans
  • Immune System Diseases / congenital
  • Mutation
  • Pruritus / drug therapy
  • Pruritus / genetics

Substances

  • Antibodies, Monoclonal, Humanized
  • Forkhead Transcription Factors
  • dupilumab

Supplementary concepts

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome