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).
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http://www.aafp.org/afp/2000/0201/p703.html 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.
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: http://www.ijdvl.com/text.asp?2017/83/1/27/190844
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: http://www.ijaweb.org/text.asp?2015/59/11/746/170037
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: http://www.ijem.in/text.asp?2012/16/8/302/104068