2014, Number 1-3
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Med Cutan Iber Lat Am 2014; 42 (1-3)
Hereditary leiomyomatosis. A case report
Cabrera-Hernández A, Medina-Montalvo S, Mesa-Latorre JM, Vélez-Velázquez MD
Language: Spanish
References: 12
Page: 57-61
PDF size: 467.82 Kb.
ABSTRACT
We report a case involving a man who complained about progressively appearing multiple tumors, some of them painful, whose histological study was consistent with piloleiomyomas. The presence of multiple lesions can be found in the context of a familial syndrome, due to mutations in the fumarate hydratase gene that may occur in addition to kidney cancer and uterine fibroids. In our case, the finding of a complete deletion of this gene confirmed the diagnosis.
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