Hereditary leiomyomatosis and renal cell carcinoma
| Hereditary leiomyomatosis and renal cell carcinoma | |
|---|---|
| Specialty | Dermatology, nephrology, oncology |
| Causes | autosomal dominant |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is rare disorder associated with benign smooth muscle tumors and an increased risk of renal cell carcinoma.
Signs and symptoms[]
People affected with HLRCC develop leiomyomas, smooth muscle growths or tumors, in the skin (most often in the extremities, trunk, and face) and uterus. These growths increase in size and number throughout the lifetime.[1]
People with HLRCC have an approximately 15% chance of developing renal cell carcinoma in their lifetime.[2] This is most commonly which is an aggressive form.[1]
Cause[]
HLRCC is an autosomal dominant condition caused by a mutation in the FH gene, which results in dysfunction of the citric acid cycle, leading to an accumulation of fumarate.[2][3]
Treatment[]
Leiomyomas do not typically require treatment unless they cause pain.[1]
Epidemiology[]
HLRCC affects males and females equally.[1] Thus far, HLRCC has been found in 300 families worldwide.[3]
See also[]
- Von Hippel–Lindau disease
- Birt-Hogg-Dube syndrome
References[]
- ^ a b c d "Hereditary Leiomyomatosis and Renal Cell Carcinoma". NORD (National Organization for Rare Disorders). Retrieved 8 April 2019.
- ^ a b Menko, Fred H.; Maher, Eamonn; Schmidt, Laura S.; Middelton, Lindsay A.; Aittomäki, Kristiina; Tomlinson, Ian; Richard, Stéphane; Linehan, W. Marston (December 2014). "Hereditary leiomyomatosis and renal cell cancer (HLRCC). Renal cancer risk, surveillance and treatment". Familial Cancer. 13 (4): 637–644. doi:10.1007/s10689-014-9735-2. ISSN 1389-9600. PMC 4574691. PMID 25012257.
- ^ a b Reference, Genetics Home. "HLRCC". Genetics Home Reference. Retrieved 8 April 2019.
- Rare diseases