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Causes
By Mayo Clinic staffTuberous sclerosis is a genetic disease caused by mutations in the TSC1 or TSC2 gene. Normally, these genes are thought to prevent cells from growing too fast or in an uncontrolled manner. Mutations in either of these genes can cause cells to divide excessively, which leads to numerous lesions throughout the body. Researchers don't know what causes these genetic mutations.
References
- Tuberous sclerosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm. Accessed Oct. 4, 2011.
- Seibert D, et al. Recognition of tuberous sclerosis in adult women: Delayed presentation with life-threatening consequences. Annals of Internal Medicine. 2011;154:806.
- Tuberous sclerosis complex. http://www.uptodate.com/home/index.html. Accessed Oct. 5, 2011.
- My child has tuberous sclerosis: A brochure for parents. Tuberous Sclerosis Alliance. http://www.tsalliance.org/publications/52810_NTSA.pdf. Accessed Oct. 4, 2011.
- Tuberous sclerosis complex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed Oct. 4, 2011.
- DeKlotz CMC, et al. Dramatic improvement of facial angiofibromas in tuberous sclerosis with topical rapamycin: Optimizing a treatment protocol. Archives of Dermatology. 2011;147:1116.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 8, 2011.
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