Tuberous Sclerosis

Tuberous Sclerosis

Last Reviewed : 12/29/2020
Tuberous Sclerosis

Tuberous sclerosis is a rare multisystem genetic disease that causes benign tumors 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, and lung and kidney disease. Tuberous sclerosis is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.

The name, composed of the Latin tuber (swelling) and the Greek skleros (hard), refers to the pathological finding of thick, firm, and pale gyri, called "tubers", in the brains of patients post mortem. These tubers were first described by Désiré-Magloire Bourneville in 1880; the cortical manifestations may sometimes still be known by the eponym Bourneville's disease(English /b??rn'vi?l/) or Bourneville–Pringle disease (after Bourneville and John James Pringle).

We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.



Basic information: nhs uk tuberous sclerosis mayo clinic tuberous sclerosis health line tuberous sclerosis web md tuberous sclerosis complex (tsc) tuberous sclerosis medline plus tuberous sclerosis family doctor tuberous sclerosis dermnet nz tuberous sclerosis brain foundation tuberous sclerosis better health tuberous sclerosis news medical tuberous sclerosis cleveand clinic tuberous sclerosis newyork times tuberous sclerosis merck manuals tuberous sclerosis university of maryland medical center tuberous sclerosis


Advanced information: medscape tuberous sclerosis genetics home research tuberous sclerosis patient tuberous sclerosis national organisation for rare diseases tuberous sclerosis radiopedia tuberous sclerosis recognizing an index case of tuberous sclerosis by joseph s. hurst, m.d., columbus regional family practice residency program, columbus, georgia susan wilcoski, m.d., swedish covenant/chicago medical school family practice residency program, north chicago, illinois am fam physician. 2000 feb 1;61(3):703-708.



cansu a, ahmetoglu a, kul s, uzman d, ersoz s. nonfunctional islet cell tumor of the pancreas in a patient with tuberous sclerosis: a case report with literature review. j clin imaging sci [serial online] 2014 [cited 2017 jan 27];4:3. available from:

cinar sl, kartal d, bayram ak, canpolat m, borlu m, ferahbas a, per h. topical sirolimus for the treatment of angiofibromas in tuberous sclerosis. indian j dermatol venereol leprol [serial online] 2017 [cited 2017 jan 27];83:27-32. available from: arq. neuro-psiquiatr. vol.73 no.9 são paulo sept. 2015 images in neurology cns and cutaneous involvement in tuberous sclerosis complex by fernanda frotte bopp salomon et al., franz dn, belousova e, sparagana s,bebin em, frost md, kuperman r, et al. (2016)long-term use of everolimus in patients with tuberous sclerosis complex: final results from the exist-1 study. plos one 11(6): e0158476. doi:10.1371/journal.pone.0158476

vinayagam s, dhanger s, ramachandran s. anaesthetic management of a patient with tuberous sclerosis for partial nephrectomy. indian j anaesth [serial online] 2015 [cited 2017 jan 27];59:746-8. available from:

kota sk, meher lk, krishna s, modi k d. tuberous sclerosis: an uncommon cause of hyperprolactinemia. indian j endocr metab [serial online] 2012 [cited 2017 jan 27];16, suppl s2:302-3. available from:

radhakrishnan r, verma s. clinically relevant imaging in tuberous sclerosis. j clin imaging sci [serial online] 2011 [cited 2017 jan 27];1:39. available from:

bhawna s, sanyal k. yet another pulmonary manifestation of tuberous sclerosis. lung india [serial online] 2014 [cited 2017 jan 27];31:196-7. available from:

rathi a, bhatia ms, jhanjee a. challenges in the management of a case of tuberous sclerosis. ind psychiatry j [serial online] 2012 [cited 2017 jan 27];21:148-51. available from:

biswas s, roy ka, ghosh ks. tuberous sclerosis : a three-generation pedigree. indian j dermatol venereol leprol [serial online] 1995 [cited 2017 jan 27];61:293-4. available from:


Other helpful resources(support groups): tuberous sclerosis alliance tuberous sclerosis association tuberous sclerosis complex international (tsci) tuberous sclerosis canada


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