Erythropoietic protoporphyria: Altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations - 01/09/11
Abstract |
Acute myelogenous leukemia occurred in a 47-year-old woman whose 25-year history of cutaneous photosensitivity had been undiagnosed until abnormally high erythrocyte, plasma, and fecal protoporphyrin levels were discovered during evaluation for her hematologic disorder. She was found to be heteroallelic for ferrochelatase gene mutations, bearing a novel missense mutation caused by a C185→G (Pro62→Arg) transversion in exon 2 of one allele, and a previously described g→a transition at the +5 position of the exon 1 donor site of the other allele, confirming a diagnosis of erythropoietic protoporphyria. Successful bone marrow transplantation from her brother, who is a mildly affected bearer of the second mutation, resulted in remission of the leukemia and in conversion of the protoporphyria phenotype of the recipient to one resembling that of the donor. (J Am Acad Dermatol 2002;46:861-6.)
Le texte complet de cet article est disponible en PDF.Plan
![]() | Supported by grants from the National Institutes of Health (RO1AR18549, PO1AR44535, MO1RR00073, and RO1DK26446); from the Food and Drug Administration (FD-R-001459); and from the American Porphyria Foundation. |
![]() ![]() | Conflict of interest: None. |
![]() | Reprint requests: Alan E. Lichtin, MD, Department of Hematology/Medical Oncology, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195. |
Vol 46 - N° 6
P. 861-866 - juin 2002 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?