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

Year: 2019

Type: article

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.

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2019.02.027

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

Institutions: University of Michigan, Michigan Medicine

Language: English

Topic: Renal cell carcinoma treatment

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600