Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.
Br J Dermatol
; 179(2): 486-490, 2018 08.
Article
em En
| MEDLINE
| ID: mdl-28865079
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
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Cromossomos Humanos Par 3
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Porfiria Eritropoética
/
Transtornos de Início Tardio
Tipo de estudo:
Etiology_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Br J Dermatol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Espanha