Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report
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) represe...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-04-01
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| Series: | Skin Health and Disease |
| Online Access: | https://doi.org/10.1002/ski2.342 |
| _version_ | 1797225161804480512 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Pierre Peterlin |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T14:04:37Z |
| format | Article |
| id | doaj.art-ac9c6284044848508d9dfc030f859de4 |
| institution | Directory Open Access Journal |
| issn | 2690-442X |
| language | English |
| last_indexed | 2024-04-24T14:04:37Z |
| publishDate | 2024-04-01 |
| publisher | Wiley |
| record_format | Article |
| series | Skin Health and Disease |
| spelling | doaj.art-ac9c6284044848508d9dfc030f859de42024-04-03T10:47:27ZengWileySkin Health and Disease2690-442X2024-04-0142n/an/a10.1002/ski2.342Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case reportPierre Peterlin0Julia Bonnelye1Alice Garnier2Amandine Le Bourgeois3Thierry Guillaume4Maxime Jullien5Hervé Dutartre6Marie Le Moigne7Caroline Schmitt8Laurent Gouya9Antoine Poli10Sebastien Barbarot11Patrice Chevallier12Clinical Hematology Nantes University Hospital Nantes FranceDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes FranceClinical Hematology Nantes University Hospital Nantes FranceClinical Hematology Nantes University Hospital Nantes FranceClinical Hematology Nantes University Hospital Nantes FranceClinical Hematology Nantes University Hospital Nantes FranceDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes FranceDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes FranceReference Center for Rare Diseases Porphyrias Louis Mourier Hospital AP‐HP, Colombes and Research Center of Inflammation UMR1149 INSERM Université de Paris Paris FranceReference Center for Rare Diseases Porphyrias Louis Mourier Hospital AP‐HP, Colombes and Research Center of Inflammation UMR1149 INSERM Université de Paris Paris FranceReference Center for Rare Diseases Porphyrias Louis Mourier Hospital AP‐HP, Colombes and Research Center of Inflammation UMR1149 INSERM Université de Paris Paris FranceDermatology Department Reference Center for Cutaneous Porphyrias Nantes University Hospital Nantes FranceClinical Hematology Nantes University Hospital Nantes FranceAbstract 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.https://doi.org/10.1002/ski2.342 |
| spellingShingle | 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 Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report Skin Health and Disease |
| title | Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report |
| title_full | Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report |
| title_fullStr | Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report |
| title_full_unstemmed | Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report |
| title_short | Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report |
| title_sort | successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult a case report |
| url | https://doi.org/10.1002/ski2.342 |
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