Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations. A case report

Abstract

Congenital erythropoietic porphyria (CEP) is a rare, autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase (UROS), due to mutations in the UROS gene in chromosome 10. On occasion, patients show a mild late-onset disease, without germline UROS mutations, associated with hematologic malignancies. We report a 65-year-old patient with photosensitivity, porphyrins overexcretion and thrombocytopenia. Bone marrow analysis gave a diagnosis of myelodysplastic syndrome (MDS) with the presence of a derivative chromosome 3, possible due to an inversion including 3q21 and 3q26 breakpoints. After allogeneic stem cell transplantation a complete remission of MDS and uroporphyria was achieved. To our knowledge, this is the first reported case of acquired erythropoietic uroporphyria associated with MDS, with chromosome 3 alterations.

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