Hereditary multiple cutaneous leiomyomatosis

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منابع مشابه

Multiple Cutaneous and Uterine Leiomyomatosis

Multiple cutaneous and uterine leiomyomatosis (MCUL: OMIM 150800), which is also known as Reed syndrome, is an autosomal dominant disorder in which benign skin tumors arising from the arrector pili muscle and uterine fibroids typically develop in the third and fourth decades [1, 2]. Reed et al first reported on two families in which members of successive generations demonstrated cutaneous leiom...

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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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[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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Cutaneous leiomyomatosis in a mother and daughter*

A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uteri...

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ژورنال

عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology

سال: 2011

ISSN: 1768-3262

DOI: 10.4267/2042/44598