Back Tubereuse sklerose Afrikaans تصلب حدبي Arabic টিউবারাস স্ক্লেরোসিস Bengali/Bangla Gomoljasta skleroza BS Esclerosi tuberosa Catalan Tuberöse Sklerose German Οζώδης σκλήρυνση Greek Esclerosis tuberosa Spanish توبروز اسکلروزیس Persian Tuberoosiskleroosi Finnish
 | This article may be too technical for most readers to understand. (December 2023) |
| Tuberous sclerosis | |
|---|---|
| Other names | Tuberous sclerosis complex (TSC), Bourneville disease, Bourneville-Pringle disease[1] |
 | |
| Main symptoms and signs of tuberous sclerosis | |
| Specialty | Neurology, medical genetics |
| Prognosis | normal life expectancy |
| Frequency | 7 to 12 per 100,000[2] |
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.
TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority and tending to cause more severe symptoms.[3] These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.[4]
Prognosis is highly variable and depends on the symptoms, but life expectancy is normal for many.[4]
The prevalence of the disease is estimated to be 7 to 12 in 100,000.[2] The disease is often abbreviated to tuberous sclerosis, which refers to the hard swellings in the brains of patients, first described by French neurologist Désiré-Magloire Bourneville in 1880.[5]
- ^ Islam, Monica P.; Roach, E. Steve (2015). "Tuberous sclerosis complex". Neurocutaneous Syndromes. Handbook of Clinical Neurology. Vol. 132. pp. 97–109. doi:10.1016/B978-0-444-62702-5.00006-8. ISBN 9780444627025. PMID 26564073.
- ^ a b Cite error: The named reference
TSC-prevalencewas invoked but never defined (see the help page). - ^ Cite error: The named reference
TSC-proportionwas invoked but never defined (see the help page). - ^ a b "Tuberous Sclerosis Fact Sheet". National Institute of Neurological Disorders and Stroke. 6 July 2018. Retrieved 16 December 2018.
- ^ Brigo F, Lattanzi S, Trinka E, Nardone R, Bragazzi NL, Ruggieri M, et al. (December 2018). "First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909)". Neuropathology. 38 (6): 577–582. doi:10.1111/neup.12515. PMID 30215888. S2CID 52269610.