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The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation
Author(s) -
Varol Alexandra,
Stapleton Karen,
Roscioli Tony
Publication year - 2006
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2006.00294.x
Subject(s) - leiomyomatosis , fumarase , medicine , cancer syndrome , uterine fibroids , mutation , pathology , leiomyoma , gynecology , germline mutation , gene , genetics , biology
SUMMARY 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.