The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation |
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Authors: | Varol Alexandra Stapleton Karen Roscioli Tony |
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Institution: | Department of Dermatology, Liverpool Hospital, New South Wales, Australia. alexvarol@bluewin.ch |
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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. |
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Keywords: | leiomyosarcoma papillary renal cell carcinoma uterine fibroids |
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