The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation
| Autor: | Alexandra Varol, Karen Stapleton, Tony Roscioli |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Leiomyosarcoma
Male Pathology medicine.medical_specialty Skin Neoplasms Uterine fibroids Genetic counseling Genetic Counseling Dermatology urologic and male genital diseases Fumarate Hydratase Diagnosis Differential Leiomyomatosis Uterine cancer Medicine Humans Genetic Predisposition to Disease Carcinoma Renal Cell Papillary renal cell carcinomas business.industry Middle Aged Multiple cutaneous leiomyoma medicine.disease female genital diseases and pregnancy complications Kidney Neoplasms Mutation business Kidney cancer |
| Zdroj: | The Australasian journal of dermatology. 47(4) |
| ISSN: | 0004-8380 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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