Development of mixed connective tissue disease and Sjögren's syndrome in a patient with trisomy X.
Lupus
; 24(11): 1217-20, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-25854827
ABSTRACT
Increased risk of developing systemic lupus erythematosus (SLE) has been reported in patients with Klinefelter syndrome. Here, we describe a 16-year-old Japanese patient with trisomy X (47,XXX) who developed mixed connective tissue disease (MCTD) and Sjögren's syndrome. She had polyarthritis, edematous fingers with Raynaud's phenomenon, sicca syndrome, interstitial lung disease, possible myositis, and was positive for anti-nuclear antibody, anti-nRNP antibody and rheumatoid factor. This is the first report in the literature of a case of MCTD with female polysomy X, which further supports the link between the presence of extra X chromosome(s) and the development of autoimmune diseases.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Sjogren
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Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
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Doença Mista do Tecido Conjuntivo
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article