Hereditary Leiomyomatosis and Renal Cell Carcinoma
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hereditary Leiomyomatosis and Renal Cell Carcinoma is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Hereditary leiomyomatosis and renal cell carcinoma, also known as HLRCC, is a rare genetic disorder characterized by smooth muscle growths (leiomyomas) on the skin and uterus and an increased risk of developing kidney (renal) cancer. Skin growths may appear as appear as small, firm bumps (papules) or tiny lumps (nodules) and are not cancerous (benign). Uterine leiomyomas, also known as uterine fibroids, may be numerous and are also benign, but can cause symptoms such as heavy menstrual periods or pelvic pressure or pain. Affected individuals are at an increased risk of developing kidney cancer, particularly a form known as type II papillary renal cell carcinoma. Kidney cancer associated with HLRCC is cancerous (malignant) and can be aggressive and spread (metastasize) to other areas of the body. HLRCC is caused by mutations in the fumarate hydratase (FH) gene and is inherited as an autosomal dominant trait.
HLRCC is classified as a hereditary renal cancer syndrome, a group of disorders characterized by a genetic predisposition to renal cancer along with other symptoms. There are at least 10 identified hereditary renal cancer syndromes including Von-Hippel-Lindau disease, Birt-Hogg-Dube syndrome, and hereditary papillary renal cell carcinoma. The association of leiomyomas and uterine fibroids as a genetic disorder was first described in the medical literature by Dr. Reed in 1973 and subsequently termed multiple cutaneous and uterine leiomyoma (MCUL) or Reed's syndrome. The additional association with renal carcinoma was not established until 2001 (Launonen et al.).
- BHD Foundation c/o Myrovlytis Trust
- 26 Cadogan Square
- London SW1X 0JP
- Tel: +44 (0) 207 052 0088
- Email: contact@BHDSyndrome.org
- Website: http://www.BHDSyndrome.org
- American Society of Clinical Oncology
- 2318 Mill Road Suite 800
- Alexandria, VA 22314
- Tel: (571)483-1780
- Fax: (571)366-9537
- Tel: (888)651-3038
- Email: email@example.com
- Website: http://www.cancer.net/
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
- 422 Bryn Mawr Avenue
- Bala-Cynwyd, PA 19004
- Tel: (610)667-7757
- Fax: (610)667-8096
- Tel: (888)750-4377
- Email: firstname.lastname@example.org
- Website: http://www.hersfoundation.com/
Kidney Cancer Association
- P.O. Box 803338 #38269
- Chicago, IL 60680-3338
- Tel: (847)332-1051
- Fax: (847)332-2978
- Tel: (800)850-9132
- Email: email@example.com
- Website: http://www.curekidneycancer.org
- 26 Cadogan Square
- London, SW1X 0JP
- United Kingdom
- Tel: +44 (0)20 7193 8921
- Email: firstname.lastname@example.org
- Website: http://www.myrovlytistrust.org
Rare Cancer Alliance
- 1649 North Pacana Way
- Green Valley, AZ 85614
- Website: http://www.rare-cancer.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 12/24/1969
Copyright 2014 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.