Article
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
Dermatology (Basel, Switzerland) - 1 Jan 2010
Parmentier Laurent, Tomlinson Ian, Happle Rudolf, Borradori Luca
Abstract excerpt
BACKGROUND: Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer. It is caused by deleterious mutations in the fumarate hydratase (FH) gene. In many patients, skin leiomyomas have been reported to develop according to a segmental type 1 or type 2 distribution. We report a patient showing multiple leiomyomas distributed according to a...
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