The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
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.
Varol
Alexandra
A
Department of Dermatology, Liverpool Hospital, New South Wales, Australia. alexvarol@bluewin.ch
Stapleton
Karen
K
Roscioli
Tony
T
D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005649:Fumarate Hydratase / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018231:Leiomyomatosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
D005649:Fumarate Hydratase