Skin Health and Disease (Apr 2024)

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report

  • Pierre Peterlin,
  • Julia Bonnelye,
  • Alice Garnier,
  • Amandine Le Bourgeois,
  • Thierry Guillaume,
  • Maxime Jullien,
  • Hervé Dutartre,
  • Marie Le Moigne,
  • Caroline Schmitt,
  • Laurent Gouya,
  • Antoine Poli,
  • Sebastien Barbarot,
  • Patrice Chevallier

DOI
https://doi.org/10.1002/ski2.342
Journal volume & issue
Vol. 4, no. 2
pp. n/a – n/a

Abstract

Read online

Abstract Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem cell transplantation (Allo‐SCT) represents the only curative treatment and few allotransplanted cases have been reported in children but not in adults. Here we report for the first time the successful cure of a 46‐year old man with CEP with a 5‐year follow‐up after Allo‐SCT.