Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report. (1st August 2018)

• Record Type: Journal Article
• Authors: Podlipnik, S.; Guijarro, F.; Combalia, A.; To‐Figueras, J.; Badenas, C.; Costa, D.; Rozman, M.; Jorge, S.; Aguilera, P.; Gaya, A.
• Is Part Of: British journal of dermatology. Volume 179:Number 2(2018)
• Page Start: 486
• Page End: 490
• Publication Date: 2018-08-01
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.15927
• Languages: English
• ISSNs: 0007-0963

Abstract

Summary: Congenital erythropoietic porphyria is a rare autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase, owing to mutations in UROS in chromosome 10. Occasionally, patients show a mild, late‐onset disease, without germline UROS mutations, associated with haematological malignancies. We report a 65‐year‐old patient with photosensitivity, overexcretion of porphyrins and thrombocytopenia. Bone marrow analysis gave a diagnosis of myelodysplastic syndrome (MDS) with the presence of a derivative chromosome 3, possibly due to an inversion including 3q21 and 3q26 break points. After allogeneic stem‐cell transplantation, 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.