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2019•JAAD Case ReportsOpen access

A few pink papules in an adult woman: Incidental finding leads to diagnosis of hereditary leiomyomatosis and renal cell cancer

Kelly Z. Young, Tom D. Raisanen, Tobias Else, Paul W. Harms, Kelly B. Cha

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Abstract

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant condition caused by highly penetrant pathogenic variants in the fumarate hydratase (FH) gene.1 Fumarate hydratase is an enzyme responsible for the conversion of fumarate to malate in the Krebs cycle and is thought to be a tumor suppressor gene.1 Classically, HLRCC has a predisposition to the development of cutaneous leiomyomas, uterine leiomyomas (fibroids), and renal cell carcinoma (RCC).1 However, clinical presentation and disease phenotypes vary widely.

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What this paper is about

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant condition caused by highly penetrant pathogenic variants in the fumarate hydratase (FH) gene.1 Fumarate hydratase is an enzyme responsible for the conversion of fumarate to malate in the Krebs cycle and is thought to be a tumor suppressor gene.1 Classically, HLRCC has a predisposition to the development of cutaneous leiomyomas, uterine leiomyomas (fibroids), and renal cell carcinoma (RCC).1 However, clinical presentation and disease phenotypes vary widely.

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Available abstract

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant condition caused by highly penetrant pathogenic variants in the fumarate hydratase (FH) gene.1 Fumarate hydratase is an enzyme responsible for the conversion of fumarate to malate in the Krebs cycle and is thought to be a tumor suppressor gene.1 Classically, HLRCC has a predisposition to the development of cutaneous leiomyomas, uterine leiomyomas (fibroids), and renal cell carcinoma (RCC).1 However, clinical presentation and disease phenotypes vary widely.

Key concepts: Fumarase, Leiomyomatosis, Medicine, Pathology, Renal cell carcinoma, Leiomyoma, Cancer research, Gene

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A few pink papules in an adult woman: Incidental finding leads to diagnosis of hereditary leiomyomatosis and renal cell cancer — Research Paper | ScholarLens