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.

Details

Title
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report
Author
Peterlin, Pierre 1   VIAFID ORCID Logo  ; Bonnelye, Julia 2 ; Garnier, Alice 3 ; Le Bourgeois, Amandine 3 ; Guillaume, Thierry 1 ; Jullien, Maxime 3 ; Dutartre, Hervé 2 ; Le Moigne, Marie 2 ; Schmitt, Caroline 4 ; Gouya, Laurent 4 ; Poli, Antoine 4 ; Barbarot, Sebastien 2 ; Chevallier, Patrice 1 

1  Equipe 12 CRCI2NA ‐ INSERM UMR1307, CNRS UMR 6075, CRCINA IRS‐UN, University of Nantes, Nantes, France 
2  Dermatology Department, Reference Center for Cutaneous Porphyrias, Nantes University Hospital, Nantes, France 
3  Clinical Hematology, Nantes University Hospital, Nantes, France 
4  Reference Center for Rare Diseases Porphyrias, Louis Mourier Hospital, AP‐HP, Colombes and Research Center of Inflammation, UMR1149 INSERM, Université de Paris, Paris, France 
Section
CASE REPORTS
Publication year
2024
Publication date
Apr 1, 2024
Publisher
Oxford University Press
e-ISSN
2690442X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1002/ski2.342
ProQuest document ID
3089836946
Copyright
© 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the "License"). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.