Tuberous sclerosis complex

Common Name(s)

Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a rare genetic condition that causes non-cancerous (benign) tumors to grow throughout the body. These tumors typically form in the brain, heart, kidneys, skin and lungs; causing multiple health issues. The symptoms of TSC depend on tumor location. Some people can have a severe form of TSC, causing significant health problems; while some cases are so mild that they may never be diagnosed. The most common symptoms of TSC involve the skin. These can include light patches, thickened raised areas, and small tumors under the nails. Some other common features involve the brain. These can include seizures, developmental delays, and behavior problems. TSC can also affect the kidneys, heart, and lungs. Many individuals with TSC are able to live a normal life span.

TSC is an autosomal dominant genetic condition that results from a mutation (change) in one of two different genes; TSC1 and TSC2. These genes are important instructions for cell growth and size. If a person is born with a mutation in one of these two genes, their cells will grow too fast and create benign tumors. Your physician may suspect TSC if you or your child has a combination of the symptoms associated with the condition. An electroencephalogram (EEG) may be used to diagnose seizures. A physical exam, typically performed by a skin doctor (dermatologist), may be needed to look for skin features of TSC. Genetic testing may be needed to confirm the diagnosis. There is no cure for TSC. However, early diagnosis and intervention can help address many symptoms. Medications can be used to treat seizures, while physical and occupational therapy can help with daily tasks. If a tumor prevents an organ from functioning properly, surgery may be needed. If you or your child has been diagnosed with TSC, talk with your doctor to decide which treatment option is best for you.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tuberous sclerosis complex" for support, advocacy or research.

LAM Treatment Alliance

The LAM Treatment Alliance (LTA) is a 501(c)(3) non-profit organization fostering innovative patient engagement and awareness of wellness within the context of LAM. The LTA provides tools, access, and information to patients in an effort to improve health, quality of life, and modulation of disease.

Last Updated: 13 Mar 2013

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Tuberous Sclerosis Alliance

The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected.

Last Updated: 30 Oct 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tuberous sclerosis complex" for support, advocacy or research.

LAM Treatment Alliance

The LAM Treatment Alliance (LTA) is a 501(c)(3) non-profit organization fostering innovative patient engagement and awareness of wellness within the context of LAM. The LTA provides tools, access, and information to patients in an effort to improve health, quality of life, and modulation of disease.

http://www.curelam.org

Last Updated: 13 Mar 2013

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Tuberous Sclerosis Alliance

The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected.

http://www.tsalliance.org

Last Updated: 30 Oct 2012

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General Support Organizations

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General Resources

TSC Facebook Discussion Group

Online discussion group for anyone affected by tuberous sclerosis complex.

Updated 26 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tuberous sclerosis complex" returned 200 free, full-text research articles on human participants. First 3 results:

Macrodactyly and poliosis in tuberous sclerosis complex.
 

Author(s): Teguh Haryo Sasongko, Nur Farrah Dila Ismail, N A M Nik Mohd Ariff, Z A M H Zabidi-Hussin

Journal: Jpn. J. Clin. Oncol.. 2014 Nov;44(11):1130.

 

Last Updated: 31 Oct 2014

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Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.
 

Author(s): Ning Liang, Chi Zhang, Patricia Dill, Ganna Panasyuk, Delphine Pion, Vonda Koka, Morgan Gallazzini, Eric N Olson, Hilaire Lam, Elizabeth P Henske, Zheng Dong, Udayan Apte, Nicolas Pallet, Randy L Johnson, Fabiola Terzi, David J Kwiatkowski, Jean-Yves Scoazec, Guido Martignoni, Mario Pende

Journal: J. Exp. Med.. 2014 Oct;211(11):2249-63.

 

Genetic studies have shown that the tuberous sclerosis complex (TSC) 1-TSC2-mammalian target of Rapamycin (mTOR) and the Hippo-Yes-associated protein 1 (YAP) pathways are master regulators of organ size, which are often involved in tumorigenesis. The crosstalk between these signal ...

Last Updated: 21 Oct 2014

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Multiple ungual fibromas as an only cutaneous manifestation of tuberous sclerosis complex.
 

Author(s): Ezgi Unlu, Ilknur Balta, Serhan Unlu

Journal: Indian J Dermatol Venereol Leprol. ;80(5):464-5.

 

Last Updated: 9 Sep 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tuberous sclerosis complex" returned 23 free, full-text review articles on human participants. First 3 results:

Mechanism-based treatment in tuberous sclerosis complex.
 

Author(s): Kristina Jülich, Mustafa Sahin

Journal: Pediatr. Neurol.. 2014 Apr;50(4):290-6.

 

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that affects the brain in almost every patient. It is caused by a mutation in the TSC1 or TSC2 genes, which regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. ...

Last Updated: 17 Mar 2014

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Coexistence of tuberous sclerosis complex and malignant melanoma.
 

Author(s): Meral Günaldi, Semra Paydas, Cigdem Usul Afsar, Figen Doran

Journal: Singapore Med J. 2013 Nov;54(11):e233-5.

 

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterised by widespread hamartomas in organs such as the skin, brain, heart, lung, liver and kidney. Although associations of TSC with hamartomas, angiomyolipomas and fibromas have been reported, there has been ...

Last Updated: 26 Nov 2013

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Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.
 

Author(s): Darcy A Krueger, Hope Northrup,

Journal: Pediatr. Neurol.. 2013 Oct;49(4):255-65.

 

Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. ...

Last Updated: 23 Sep 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Tuberous Sclerosis Complex Natural History Study: Renal Manifestations
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex

 

Last Updated: 1 Aug 2012

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Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC)
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex

 

Last Updated: 5 Feb 2015

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Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex; TSC Related Cognitive Disability; TSC Related Autism; TSC Related Learning Problems

 

Last Updated: 4 May 2015

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