Abstract
The only curative treatment for congenital erythropoietic porphyria (CEP) is bone marrow transplantation (BMT), but long-term data on this therapy in CEP are scarce. We present the evolution after 12 years of a case of CEP treated with BMT. The BMT has allowed the young patient to develop adequately and to avoid devastating consequences, but mild skin symptoms along with liver and kidney damage persist.
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