The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation

Alexandra Varol; Karen Stapleton; Tony Roscioli

doi:10.1111/j.1440-0960.2006.00294.x

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation

Australas J Dermatol. 2006 Nov;47(4):274-6. doi: 10.1111/j.1440-0960.2006.00294.x.

Authors

Alexandra Varol¹, Karen Stapleton, Tony Roscioli

Affiliation

¹ Department of Dermatology, Liverpool Hospital, New South Wales, Australia. alexvarol@bluewin.ch

PMID: 17034471
DOI: 10.1111/j.1440-0960.2006.00294.x

Abstract

A 55-year-old woman presented with multiple cutaneous leiomyomas and multiple uterine leiomyomas (fibroids). The clinical diagnosis of the autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome was confirmed by identification of a fumarate hydratase gene mutation. This case highlights the need to consider the possibility of renal and uterine cancer in members of cutaneous leiomyomatosis families.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Carcinoma, Renal Cell / diagnosis*
Carcinoma, Renal Cell / genetics
Carcinoma, Renal Cell / pathology
Diagnosis, Differential
Fumarate Hydratase / genetics*
Genetic Counseling
Genetic Predisposition to Disease*
Humans
Kidney Neoplasms / diagnosis*
Kidney Neoplasms / genetics
Kidney Neoplasms / pathology
Leiomyomatosis / diagnosis*
Leiomyomatosis / genetics
Leiomyomatosis / pathology
Male
Middle Aged
Mutation
Skin Neoplasms / diagnosis*
Skin Neoplasms / genetics
Skin Neoplasms / pathology

Substances

Fumarate Hydratase