Hereditary leiomyomatosis and renal cell cancer syndrome

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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC syndrome): a case report

Recently multiple cutaneous leiomyomas, uterine leiomyoimatosis and renal cancer have been described as a cancer syndrome with autosomal dominant pattern of inheritance.We report a 79-year-old man who presented with multiple hyperkertotic erythematous nodules on his right leg with histological diagnosis of pilar leiomyoma. In his past medical history several systemic co...

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[Hereditary leiomyomatosis and renal cell cancer].

Presentamos el caso de una paciente de 52 años, cuya hermana ha sido recientemente diagnosticada de una mutación heterocigota del gen FH asociado a leiomiomatosis hereditaria y cáncer de células renales. La hermana fue estudiada por la presencia de leiomiomas cutáneos múltiples y una historia de miomas uterinos, por los que precisó histerectomía. Nuestra paciente es una mujer sana cuyo único an...

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Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids

Objective To report a diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome following initial presentation with multiple cutaneous lesions. Design Case report. Design classification N/A. Setting Academic tertiary care center. Patients 27-year-old nulligravid woman who presented with multiple red-brown lesions on her skin found to have cutaneous and uterine leiomy...

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Hereditary leiomyomatosis and renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal-dominant hereditary syndrome, which is caused by germline mutations in the FH gene that encodes the tricarboxylic acid cycle enzyme fumarate hydratase (FH). HLRCC patients are predisposed to develop cutaneous leiomyomas, multiple, symptomatic uterine fibroids in young women resulting in early hysterectomies, and early on...

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ژورنال

عنوان ژورنال: Canadian Medical Association Journal

سال: 2015

ISSN: 0820-3946,1488-2329

DOI: 10.1503/cmaj.150191