Hereditary leiomyomatosis and renal cell cancer [Supplementary Concept]
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
Date introduced: August 25, 2010
MeSH Unique ID: C535516
Heading Mapped to:
Entry Terms:
- Reed's syndrome
- Multiple cutaneous and uterine leiomyomatosis
- Cutaneous leiomyomata with uterine leiomyomata
- Leiomyoma, hereditary multiple, of skin
- Multiple cutaneous and uterine leiomyomata 1
- Leiomyoma, multiple cutaneous
- Leiomyomatosis and renal cell cancer, hereditary