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[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].

Annales de dermatologie et de venereologie - 1 Oct 2010

Lebreuilly-Sohyer I, Morice A, Acher A, Dompmartin A, Clement C, de Verneuil H, Ged C, Leroy D, Verneuil L

Abstract excerpt

BACKGROUND: Congenital erythropoietic porphyria (CEP) is a genodermatosis associated uroporphyrinogen III synthase deficit that results in porphyrin accumulation in various organs, particularly the skin. It is the most severe form of porphyria associated with haemolytic anaemia and cutaneous phototoxicity. We report a severe case of CEP treated by allogeneic bone marrow transplantation. CASE REPORT: A...

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PMID: 20932444
DOI: 10.1016/j.annder.2010.06.018

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