Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis

Parmentier, Laurent; Tomlinson, Ian; Happle, Rudolf; Borradori, Luca (2010). Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. Dermatology, 221(2), pp. 149-53. Basel: Karger 10.1159/000315068

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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 segmental type 2 distribution and covering several areas exclusively on the left side of his body.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Dermatology

UniBE Contributor:

Parmentier, Laurent Philippe Simon and Borradori, Luca

ISSN:

1018-8665

Publisher:

Karger

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:12

Last Modified:

06 Dec 2013 13:22

Publisher DOI:

10.1159/000315068

PubMed ID:

20628236

Web of Science ID:

000281519000012

URI:

https://boris.unibe.ch/id/eprint/2263 (FactScience: 204654)

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