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{{Infobox_Disease |
{{Tuberous sclerosis}}
  Name          = Tuberous sclerosis|
{{CMG}}; {{AE}} {{Jose}}
  Image          = TuberousSclerosis-Rayer.jpg|
 
  Caption        = Earliest illustration, from [[Pierre François Olive Rayer|Rayer]]'s atlas of skin diseases, 1835.|
==[[Tuberous sclerosis overview|Overview]]==
}}
 
==[[Tuberous sclerosis historical perspective|Historical Perspective]]==


{{Tuberous sclerosis}}
==[[Tuberous sclerosis classification|Classification]]==


'''For patient information on this page, click [[Tuberous sclerosis (patient information)|here]]'''
==[[Tuberous sclerosis pathophysiology|Pathophysiology]]==


{{CMG}}; {{AE}} {{RT}}
==[[Tuberous sclerosis causes|Causes]]==


{{SK}} Tuberous sclerosis complex, TSC, Bourneville disease, Bourneville-Pringle syndrome, epiloia
==[[Tuberous sclerosis differential diagnosis|Differentiating Any Disease from other Diseases]]==


===Imaging===
==[[Tuberous sclerosis epidemiology and demographics|Epidemiology and Demographics]]==
==Treatment==
===Medical therapy===
'''Drug therapy''' for some of the manifestations of TSC is currently in the developmental stage.<ref>{{cite journal | pmid = 16868562 | doi=10.1038/sj.ejhg.5201625 | volume=14 | issue=10 | title=Tuberous sclerosis | year=2006 | month=October | author=Yates JR | journal=Eur. J. Hum. Genet. | pages=1065–73}}</ref> For example, a 2008 study found that treatment with [[rapamycin]] rescued learning and memory deficits in a mouse model of tuberous sclerosis.<ref>{{cite journal |journal= Nat Med |year=2008 |title= Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis |author= Ehninger D, Han S, Shilyansky C ''et al.'' |doi=10.1038/nm1788 |pmid=18568033 |laysummary=http://www.sciencedaily.com/releases/2008/06/080622224428.htm |laysource= Science News |laydate=23 June 2008 |volume= 14 |pages= 843–8 |issue= 8 |pmc= 2664098}}</ref> [[Community TSC]] is a distributed computing project to find drugs to treat TSC.{{Citation needed|date=June 2008|laysummary=http://www.childhooddiseases.org/community_tsc.html}}
The patients usually have relapse of symptoms in the clinical course. Unless any vital function is affected, life expectancy is good. Majority of patients will require some medications to control symptoms, e.g., anti-epileptics to control seizures.
In 2010 [[everolimus]] was approved for the treatment of [[subependymal giant cell astrocytoma]].


Other drugs used include:
==[[Tuberous sclerosis risk factors|Risk Factors]]==  
* [[Vigabatrin]]<ref name="pmid19557123">{{cite journal |author=Tsao CY |title=Current trends in the treatment of infantile spasms |journal=Neuropsychiatr Dis Treat |volume=5 |issue= |pages=289–99 |year=2009 |pmid=19557123 |pmc=2695218 |doi= |url=http://www.dovepress.com/articles.php?article_id=3150}}</ref>
* [[ACTH]]<ref name="Shorvon2010">{{cite book|author=Simon D. Shorvon|title=Handbook of Epilepsy Treatment|url=http://books.google.com/books?id=ce1YGxllLsgC&pg=PA93|accessdate=11 October 2010|year=2010|publisher=John Wiley and Sons|isbn=978-1-4051-9818-9|pages=93–}}</ref>


'''Facial angiofibromas''' is a socially embarrassing rash that starts to appear during childhood and can be removed using [[dermabrasion]] or laser treatment.
==[[Tuberous sclerosis screening|Screening]]==


===Surgical therapy===
==[[Tuberous sclerosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
'''Ungual''' or '''subungual fibromas''' may need to be surgically removed if they enlarge or cause bleeding.


==References==
==Diagnosis==
{{Reflist|2}}
[[Tuberous sclerosis history and symptoms|History and Symptoms]] | [[Tuberous sclerosis physical examination|Physical Examination]] | [[Tuberous sclerosis laboratory findings|Laboratory Findings]] | [[Tuberous sclerosis electrocardiogram|Electrocardiogram]] | [[Tuberous sclerosis chest x ray|Chest X Ray]] | [[Tuberous sclerosis CT|CT]] | [[Tuberous sclerosis MRI|MRI]] | [[Tuberous sclerosis echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Tuberous sclerosis other imaging findings|Other Imaging Findings]] | [[Tuberous sclerosis other diagnostic studies|Other Diagnostic Studies]]


====Support Groups====
==Treatment==
* United Kingdom: [http://www.tuberous-sclerosis.org/ The Tuberous Sclerosis Association]. Awareness month is October.
[[Tuberous sclerosis medical therapy|Medical Therapy]] | [[Tuberous sclerosis surgery|Surgery]] | [[Tuberous sclerosis primary prevention|Primary Prevention]] | [[Tuberous sclerosis secondary prevention|Secondary Prevention]] | [[Tuberous sclerosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Tuberous sclerosis future or investigational therapies|Future or Investigational Therapies]]
* United States: [http://www.tsalliance.org/ Tuberous Sclerosis Alliance]. Awareness month is May.
* Canada: [http://www.tscst.org/ Tuberous Sclerosis Canada]. Awareness month is May.
* Australasia: [http://www.atss.org.au/ Australasian Tuberous Sclerosis Society].
* Brazil: [http://www.abet.org.br/entrada.htm Associação Brasileira de Esclerose Tuberosa (''Brazilian Tuberous Sclerosis Association'')] {{pt icon}}
* Taiwan: [http://www.ttsc.org.tw Taiwan Tuberous Sclerosis Complex]  


{{Phakomatoses and other congenital malformations not elsewhere classified}}
==Case Studies==
[[Tuberous sclerosis case study one|Case #1]]


[[Category:Genetic disorders]]
[[Category:Disease]]
[[Category:Neurology]]


[[es:Esclerosis tuberosa]]
[[Category:Projects]]
[[fr:Sclérose tubéreuse de Bourneville]]
[[Category:Help]]
[[ja:結節性硬化症]]
[[pl:Stwardnienie guzowate]]
[[zh:结节性硬化症]]


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Latest revision as of 17:51, 23 June 2020

Tuberous sclerosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Pathophysiology

Differentiating Tuberous sclerosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Tuberous sclerosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Tuberous sclerosis

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Tuberous sclerosis

CDC on Tuberous sclerosis

Tuberous sclerosis in the news

Blogs on Tuberous sclerosis

Directions to Hospitals Treating Tuberous sclerosis

Risk calculators and risk factors for Tuberous sclerosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Any Disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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