Hereditary leiomyomatosis and renal cell cancer

A hereditary condition where patients present with cutaneous LEIOMYOMAS (female patients may also have uterine leiomyomas) and are at increased risk for developing KIDNEY NEOPLASMS. Tumors initally appear during adulthood on the skin of the torso, arms, legs, and face and increase in size and number over time; 10% to 16% of patients develop RENAL CELL CARCINOMA. A heterozygous germline mutation in the FH gene has been identified. OMIM: 150800

Also Known As:

Cutaneous leiomyomata with uterine leiomyomata; Leiomyoma, hereditary multiple, of skin; Leiomyoma, multiple cutaneous; Leiomyomatosis and renal cell cancer, hereditary; Multiple cutaneous and uterine leiomyomata 1; Multiple cutaneous and uterine leiomyomatosis; Reed's syndrome

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Hereditary leiomyomatosis and renal cell cancer: 131
- Neoplasms by Site: 4
  - Skin Neoplasms: 8909
    - Hereditary leiomyomatosis and renal cell cancer: 131
  - Urogenital Neoplasms: 471
    - Female Genital Neoplasms: 105
      - Uterine Neoplasms: 1516
        Hereditary leiomyomatosis and renal cell cancer: 131
- Neoplasms by Histologic Type: 2
  - Connective and Soft Tissue Neoplasms: 1
    - Muscle Tissue Neoplasms: 89
      - Leiomyoma: 8118
        Leiomyomatosis: 415
        Hereditary leiomyomatosis and renal cell cancer: 131
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Hereditary leiomyomatosis and renal cell cancer: 131
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Neoplasms: 8909
    - Hereditary leiomyomatosis and renal cell cancer: 131
Urogenital Diseases: 126
- Urogenital Neoplasms: 471
  - Female Genital Neoplasms: 105
    - Uterine Neoplasms: 1516
      - Hereditary leiomyomatosis and renal cell cancer: 131
- Genital Diseases: 114
  - Female Genital Diseases: 393
    - Uterine Diseases: 433
      - Uterine Neoplasms: 1516
        Hereditary leiomyomatosis and renal cell cancer: 131
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Neoplasms: 471
      - Female Genital Neoplasms: 105
        Uterine Neoplasms: 1516
        Hereditary leiomyomatosis and renal cell cancer: 131
    - Female Genital Diseases: 393
      - Uterine Diseases: 433
        Uterine Neoplasms: 1516
        Hereditary leiomyomatosis and renal cell cancer: 131

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