Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis

European Journal of Dermatology : EJD
Sadhanna Badeloe, Jorge Frank

Abstract

Multiple cutaneous and uterine leiomyomatosis syndrome (MCUL; OMIM 150800) is an autosomal dominantly inherited tumor predisposition disorder, characterized by leiomyomas of the skin and uterus. When associated with kidney cancer, this syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). All disease variants result from heterozygous mutations in the fumarate hydratase (FH) gene. Cutaneous leiomyoma can easily be recognized and confirmed by histological examination. Recognition of these benign skin tumors can lead to the diagnosis of MCUL or HLRCC. Timely diagnosis is crucial for offering affected individuals and families potentially life-saving regular prophylactic screening examinations for renal tumors. Here we provide an overview of clinical and genetic features of this complex tumor syndrome and discuss patient management and current therapeutic strategies.

Citations

Dec 19, 2013·Anais Brasileiros De Dermatologia·André LencastreAna Fidalgo
Dec 5, 2014·The Journal of Endocrinology·Maria Candida Barisson Villares FragosoAndré Lacroix
Oct 21, 2010·Der Pathologe·T MentzelA Hartmann
Feb 1, 2011·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·J Frank, P Poblete-Gutiérrez
Mar 30, 2012·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·S A BraunJ Frank
Aug 1, 2012·The Cancer Journal·Michele Gabree, Meredith Seidel
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Jan 15, 2022·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·Carmen Maria SalavastruGeorge-Sorin Tiplica

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