Multicentric dermatofibrosarcoma protuberans in a child with severe combined immunodeficiency due to adenosine deaminase deficiency

Pediatr Dermatol. 2021 Jul;38(4):875-878. doi: 10.1111/pde.14597. Epub 2021 Apr 30.

Abstract

We report the case of a 4-year-old boy, post-human stem cell transplantation for severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA), who developed multiple dermatofibrosarcoma protuberans (DFSP). We hypothesize a role for chimerism leading to accumulation of toxic metabolites which can cause DNA strand breaks and inhibit lymphocyte activation. Patients with ADA-SCID should remain under lifelong dermatologic surveillance as DFSP lesions can be quite inconspicuous.

Keywords: adenosine deaminase deficiency; dermatofibrosarcoma protuberans; severe combined immunodeficiency.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Deaminase
  • Agammaglobulinemia
  • Child
  • Child, Preschool
  • Dermatofibrosarcoma* / diagnosis
  • Humans
  • Male
  • Severe Combined Immunodeficiency* / complications
  • Severe Combined Immunodeficiency* / diagnosis
  • Severe Combined Immunodeficiency* / therapy
  • Skin Neoplasms* / complications
  • Skin Neoplasms* / diagnosis

Substances

  • Adenosine Deaminase

Supplementary concepts

  • Severe combined immunodeficiency due to adenosine deaminase deficiency