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 274 free, full-text research articles on human participants. First 3 results:

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.
 

Author(s): Neera Nathan, Magdalena E Tyburczy, Lana Hamieh, Ji-An Wang, G Thomas Brown, Chyi-Chia Richard Lee, David J Kwiatkowski, Joel Moss, Thomas N Darling

Journal: J. Invest. Dermatol.. 2016 Feb;136(2):535-8.

 

Last Updated: 30 Jan 2016

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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
 

Author(s): Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Chiara Vannicola, Monica Saccani, Elisabetta Magnaghi, Giulia Federica Scornavacca, Maria Paola Canevini

Journal:

 

Neuropsychiatric disorders are present in up to 90% of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting up to 61% of patients. The aims of this study ...

Last Updated: 3 Dec 2015

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PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex.
 

Author(s): Maria M Alves, Gwenny M Fuhler, Karla C S Queiroz, Jetse Scholma, Susan Goorden, Jasper Anink, C Arnold Spek, Marianne Hoogeveen-Westerveld, Marco J Bruno, Mark Nellist, Ype Elgersma, Eleonora Aronica, Maikel P Peppelenbosch

Journal:

 

Tuberous sclerosis complex (TSC) is caused by inactivating mutations in either TSC1 or TSC2 and is characterized by uncontrolled mTORC1 activation. Drugs that reduce mTOR activity are only partially successful in the treatment of TSC, suggesting that mTOR-independent pathways play ...

Last Updated: 28 Sep 2015

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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 30 free, full-text review articles on human participants. First 3 results:

Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis.
 

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

Journal:

 

Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in ...

Last Updated: 11 Aug 2015

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Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis.
 

Author(s): Elizabeth A Thiele, Tiziana Granata, Sara Matricardi, Harry T Chugani

Journal: Epilepsia. 2014 Aug;55 Suppl 3():29-33.

 

Children with tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis all have complex but differing needs in the process of transition/transfer to adult care. All three may be associated with long-term normal intelligence or a varying degree of intellectual ...

Last Updated: 11 Sep 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: 18 Feb 2016

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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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