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

Authors :: Peterlin P
Bonnelye J
Garnier A
Le Bourgeois A
Guillaume T
Jullien M
Dutartre H
Le Moigne M
Schmitt C
Gouya L
Poli A
Barbarot S
Chevallier P
Source :: Skin health and disease [Skin Health Dis] 2024 Jan 27; Vol. 4 (2), pp. e342. Date of Electronic Publication: 2024 Jan 27 (Print Publication: 2024).
Publication Year :: 2024
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.<br />Competing Interests: None to declare.<br /> (© 2024 The Authors. Skin Health and Disease published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)

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