tuberous-sclerosis
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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:

http://www.nhs.uk/conditions/tuberous-sclerosis/pages/introduction.aspx nhs uk tuberous sclerosis

http://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/basics/definition/con-20032953 mayo clinic tuberous sclerosis

http://www.healthline.com/health/tuberous-sclerosis health line tuberous sclerosis

http://www.webmd.com/a-to-z-guides/tuberous-sclerosis#1 web md tuberous sclerosis complex (tsc)

http://www.cancer.net/cancer-types/tuberous-sclerosis-complex cancer.net tuberous sclerosis

https://medlineplus.gov/ency/article/000787.htm medline plus tuberous sclerosis

https://familydoctor.org/condition/tuberous-sclerosis/ family doctor tuberous sclerosis

http://www.dermnetnz.org/topics/tuberous-sclerosis/ dermnet nz tuberous sclerosis

http://brainfoundation.org.au/disorders/tuberous-sclerosis brain foundation tuberous sclerosis

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis better health tuberous sclerosis

http://www.news-medical.net/health/what-is-tuberous-sclerosis.aspx news medical tuberous sclerosis

http://my.clevelandclinic.org/services/neurological_institute/epilepsy/diseases-conditions/tuberous-sclerosis-complex cleveand clinic tuberous sclerosis

http://www.nytimes.com/health/guides/disease/tuberous-sclerosis/overview.html newyork times tuberous sclerosis

http://www.merckmanuals.com/home/children-s-health-issues/neurologic-disorders-in-children/tuberous-sclerosis merck manuals tuberous sclerosis

http://umm.edu/health/medical/ency/articles/tuberous-sclerosis university of maryland medical center tuberous sclerosis

 

Advanced information:

http://emedicine.medscape.com/article/1177711-overview medscape tuberous sclerosis

https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex genetics home research tuberous sclerosis

http://patient.info/in/doctor/tuberous-sclerosis-pro patient tuberous sclerosis

https://rarediseases.org/rare-diseases/tuberous-sclerosis/ national organisation for rare diseases tuberous sclerosis

https://radiopaedia.org/articles/tuberous-sclerosis radiopedia tuberous sclerosis

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.

 

Research:

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: http://www.clinicalimagingscience.org/text.asp?2014/4/1/3/126022

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

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s0004-282x2015000900813&lng=en&tlng=en arq. neuro-psiquiatr. vol.73 no.9 são paulo sept. 2015 http://dx.doi.org/10.1590/0004-282x20150101 images in neurology cns and cutaneous involvement in tuberous sclerosis complex by fernanda frotte bopp salomon et al.,

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc4924870&blobtype=pdf 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: 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

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: http://www.clinicalimagingscience.org/text.asp?2011/1/1/39/83230

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: http://www.lungindia.com/text.asp?2014/31/2/196/129900

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: http://www.industrialpsychiatry.org/text.asp?2012/21/2/148/119635

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: http://www.ijdvl.com/text.asp?1995/61/5/293/4244

 

Other helpful resources(support groups):

http://www.tsalliance.org/ tuberous sclerosis alliance

http://www.tuberous-sclerosis.org/ tuberous sclerosis association

http://www.tscinternational.org/ tuberous sclerosis complex international (tsci)

http://www.tscanada.ca/ tuberous sclerosis canada

 

Related videos:

https://www.youtube.com/watch?v=azszu7czfus tuberous sclerosis

https://www.youtube.com/watch?v=1wcpx2q0lls tuberous sclerosis

https://www.youtube.com/watch?v=jza4xs2d-re tuberous sclerosis

https://www.youtube.com/watch?v=wtsgpi5dtme diagnosis, surveillence and management of tuberous sclerosis complex

https://www.youtube.com/watch?v=bggmbbukdcq tuberous sclerosis

https://www.youtube.com/watch?v=jlu2qzzvnq8 tuberous sclerosis complex overview87/

 

Presentations/quiz/newspaper articles:

http://www.dailymail.co.uk/health/article-3849596/a-pill-cure-autism-study-identifies-defect-sufferers-cells-treated-existing-medication.html daily mail a pill to cure autism? study identifies defect in sufferers' cells - that could be treated by existing medication

read more: http://www.dailymail.co.uk/health/article-3849596/a-pill-cure-autism-study-identifies-defect-sufferers-cells-treated-existing-medication.html#ixzz4x3va49t1

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