Article
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Experimental dermatology - 1 Sept 2006
Badeloe Sadhanna, van Geel Michel, van Steensel Maurice A M, Bastida Jesús, Ferrando Juan, Steijlen Peter M, Frank Jorge, Poblete-Gutiérrez Pamela
Abstract excerpt
Multiple cutaneous and uterine leiomyomatosis (MCUL; OMIM 150800) is an autosomal dominantly inherited disease characterized by leiomyomas of the skin and uterine leiomyomas. Recently, association of MCUL with different forms of renal cancer has been described. This syndrome is referred to as hereditary leiomyomatosis and renal cell cancer (OMIM 605839). Both disorders result from heterozygous germline mutations...
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