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| {{Infobox_Disease |
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| Name = Tuberous sclerosis|
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| Image = TuberousSclerosis-Rayer.jpg|
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| Caption = Earliest illustration, from [[Pierre François Olive Rayer|Rayer]]'s atlas of skin diseases, 1835.|
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| {{Tuberous sclerosis}} | | {{Tuberous sclerosis}} |
| | {{CMG}}; {{AE}} {{Jose}} |
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| '''For patient information on this page, click [[Tuberous sclerosis (patient information)|here]]'''
| | ==[[Tuberous sclerosis overview|Overview]]== |
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| {{CMG}}; {{AE}} {{RT}}
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| {{SK}} Tuberous sclerosis complex, TSC, Bourneville disease, Bourneville-Pringle syndrome, epiloia
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| ===Physical Examination === | | ==[[Tuberous sclerosis historical perspective|Historical Perspective]]== |
| ====Skin====
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| [http://www.peir.net Images of the nail shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology]
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| <div align="left">
| | ==[[Tuberous sclerosis classification|Classification]]== |
| <gallery heights="175" widths="175">
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| image:Adenoma_sebaceum.jpg|Adenoma sebaceum.
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| image:Subungual fibroma.jpg|[[Tuberous sclerosis]]; Subungual fibroma; Beneath the Left Index Nail
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| image:Periungual fibroma.jpg|[[Tuberous sclerosis]], Periungual Fibroma; Lateral Side of Left Great Toe Nail
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| </gallery>
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| </div>
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| The skin is examined under a [[Wood's lamp]]. The most common skin abnormalities include:
| | ==[[Tuberous sclerosis pathophysiology|Pathophysiology]]== |
| * Facial angiofibromas
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| * Ungual or subungual fibromas
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| * Hypomelanic [[macules]] ("ash leaf spots")
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| * Forehead plaques
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| * Shagreen patches
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| * Molluscum fibrosum or skin tags
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| * [[Cafe-au-lait spots]] or flat brown marks
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| * Poliosis
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| ====Head==== | | ==[[Tuberous sclerosis causes|Causes]]== |
| * Pitted tooth [[enamel]]
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| * Rubbery growths on the tongue or gums
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| ====Eyes==== | | ==[[Tuberous sclerosis differential diagnosis|Differentiating Any Disease from other Diseases]]== |
| * Retinal lesions - astrocytic hamartomas
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| * Non-retinal lesions associated with TSC include
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| ** [[Coloboma]]
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| ** Angiofibromas of the eyelids
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| ** [[Papilledema]] (related to hydrocephalus)
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| ====Heart==== | | ==[[Tuberous sclerosis epidemiology and demographics|Epidemiology and Demographics]]== |
| * A heart murmur can be heard due to the obstruction of blood flow by [[rhabdomyomas]].
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| ====Lungs==== | | ==[[Tuberous sclerosis risk factors|Risk Factors]]== |
| * Coarse rales are heard when lung parenchyma is involved.
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| * Bronchial breathing and bronchophony are heard on auscultation when multiple cysts occur in the lungs.
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| ====Extremities==== | | ==[[Tuberous sclerosis screening|Screening]]== |
| * Rough growths under or around the fingernails and toenails
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| ====Neurologic==== | | ==[[Tuberous sclerosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| * Abnormal size of head in children - due to [[hydrocephalus]]
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| * Low IQ
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| * Learning difficulties
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| * Intellectual disability
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| * Troubled communication and social interaction
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| ===Lab tests=== | | ==Diagnosis== |
| [[Molecular genetic testing]] is commercially available in the United States for the diagnosis of [[tuberous sclerosis]]. Genetic testing identifies mutations only in 75% - 80%. The 15%-20% failure rate is thought to be due to somatic mosaicism. Therefore a negative genetic test does not rule out the diagnosis of tuberous sclerosis. | | [[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]] |
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| ===Imaging===
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| ====CT====
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| {| align="center"
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| |+ '''Tuberous sclerosis'''
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| !
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| |-valign="top" | |
| | [[Image:TS-LAM.png|thumb|This CT image shows randomly arranged cysts in both lungs. The patient had TSC and a renal AML.]] | |
| | [[Image:bilateralrenalAML.jpg|thumb|140px|This is an image from a contrast-enhanced [[computed tomography]] (CT) scan of the abdomen in another patient with TSC.]] | |
| |} | |
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| ====MRI====
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| The tubers are typically triangular in configuration, with the apex pointed towards the ventricles, and are thought to represent foci of abnormal neuronal migration. The T2 signal abnormalities may subside in adulthood, but will still be visible on histopathological analysis. On [[MR|magnetic resonance imaging]], TSC patients can exhibit other signs consistent with abnormal neuron migration (radial white matter tracts hyperintense on T2WI, heterotopic gray matter).
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| [[Image:tuberoussclerosisbrainFLAIR.png|thumb|center|300px|[[MRI]] of the brain in a patient with TSC.]] | |
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| ====Echocardiography====
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| * A cardiac rhabdomyoma can be discovered using [[echocardiography]] in approximately 50% of people with TSC.
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| ====Ultrasoud====
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| * Ultrasound abdomen is used to visualize kidney [[angiomyolipomas]] and cysts
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| * Prenatal ultrasound, performed by an [[Obstetric ultrasonography|obstetric sonographer]] specializing in cardiology, can detect a rhabdomyoma after 20 weeks. This rare tumour is a strong indicator of TSC in the child, especially if there is a family history of TSC.
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| ==Treatment== | | ==Treatment== |
| ===Medical therapy===
| | [[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]] |
| '''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}}
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| 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.
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| In 2010 [[everolimus]] was approved for the treatment of [[subependymal giant cell astrocytoma]].
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| Other drugs used include:
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| * [[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>
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| * [[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>
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| '''Facial angiofibromas''' is a socially embarrassing rash that starts to appear during childhood and can be removed using [[dermabrasion]] or laser treatment.
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| ===Surgical therapy===
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| '''Ungual''' or '''subungual fibromas''' may need to be surgically removed if they enlarge or cause bleeding.
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| ==References==
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| {{Reflist|2}}
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| ====Support Groups====
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| * United Kingdom: [http://www.tuberous-sclerosis.org/ The Tuberous Sclerosis Association]. Awareness month is October.
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| * United States: [http://www.tsalliance.org/ Tuberous Sclerosis Alliance]. Awareness month is May.
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| * Canada: [http://www.tscst.org/ Tuberous Sclerosis Canada]. Awareness month is May.
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| * Australasia: [http://www.atss.org.au/ Australasian Tuberous Sclerosis Society].
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| * Brazil: [http://www.abet.org.br/entrada.htm Associação Brasileira de Esclerose Tuberosa (''Brazilian Tuberous Sclerosis Association'')] {{pt icon}}
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| * Taiwan: [http://www.ttsc.org.tw Taiwan Tuberous Sclerosis Complex]
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| {{Phakomatoses and other congenital malformations not elsewhere classified}}
| | ==Case Studies== |
| | [[Tuberous sclerosis case study one|Case #1]] |
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| [[Category:Genetic disorders]]
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| [[Category:Disease]]
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| [[Category:Neurology]]
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| [[es:Esclerosis tuberosa]] | | [[Category:Projects]] |
| [[fr:Sclérose tubéreuse de Bourneville]] | | [[Category:Help]] |
| [[ja:結節性硬化症]]
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| [[pl:Stwardnienie guzowate]]
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| [[zh:结节性硬化症]]
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