Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report

• Published in: British journal of dermatology (1951) Vol. 179; no. 2; pp. 486 - 490
• Main Authors: Podlipnik, S., Guijarro, F., Combalia, A., To‐Figueras, J., Badenas, C., Costa, D., Rozman, M., Jorge, S., Aguilera, P., Gaya, A.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.08.2018
• Subjects: Bone marrow; Case reports; Chromosome 10; Chromosome 3; Chromosomes; Mutation; Myelodysplastic syndrome; Myelodysplastic syndromes; Photosensitivity; Porphyria; Porphyrins; Remission; Thrombocytopenia; Transplantation
• ISSN: 0007-0963; 1365-2133
• DOI: 10.1111/bjd.15927

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. What's already known about this topic? Acquired erythropoietic uroporphyria associated with myeloid malignancy is a rare porphyria characterized by increased levels of isomer I porphyrin in a typical congenital erythropoietic porphyria pattern but it does not harbour UROS germline mutations, and the enzymatic uroporphyrinogen III synthase activity in erythrocytes is normal. It is typically associated with myelodysplastic syndrome (MDS). Fewer than 10 cases of erythropoietic uroporphyria secondary to MDS have been described in the literature. What does this study add? This is the first reported case of noncongenital erythropoietic uroporphyria secondary to MDS with a karyotype showing the presence of a derivative chromosome 3, suspected to be the result of an inversion involving the 3q21–3q26 chromosomal regions. It is the first erythropoietic uroporphyria treated successfully with an allogeneic bone marrow transplant. Linked Comment: de Verneuil. Br J Dermatol 2018; 179:256–257.