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?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

[Tuberous sclerosis complex: the role of patient's history and clinical examination].
 

Author(s): Jawad El-Azhari, Naoufal Hjira

Journal:

 

Tuberous sclerosis complex (TSC) is a neurocutaneous multisystemic syndrome most commonly affecting the skin, the brain, the kidneys, the lungs and the eyes. The diagnosis is based on clinical characteristics; 90% of patients have skin lesions and seizures are the initial symptom ...

Last Updated: 31 Dec 1969

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Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.
 

Author(s): Shan Gao, Zhiling Wang, Yongmei Xie

Journal: Medicine (Baltimore). 2018 Jul;97(29):e11533.

 

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder. The TSC1 and TSC2 genes have been identified as pathogenic genes.

Last Updated: 31 Dec 1969

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Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the and genes.
 

Author(s): M Glushkova, V Bojinova, M Koleva, P Dimova, M Bojidarova, I Litvinenko, T Todorov, E Iluca, C Calusaru, E Neagu, D Craiu, V Mitev, A Todorova

Journal: J. Genet.. 2018 Jun;97(2):419-427.

 

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of hamartomas localized in various tissues which can occur in the skin, brain, kidney and other organs. TSC is caused by mutations in the and genes. Here we report the results from ...

Last Updated: 31 Dec 1969

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

Tuberous sclerosis complex: review based on new diagnostic criteria.
 

Author(s): Larissa Karine Leite Portocarrero, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado

Journal: An Bras Dermatol. 2018 Jun;93(3):323-331.

 

Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not ...

Last Updated: 31 Dec 1969

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mTOR Signaling and Neural Stem Cells: The Tuberous Sclerosis Complex Model.
 

Author(s): Alice Polchi, Alessandro Magini, Danila Di Meo, Brunella Tancini, Carla Emiliani

Journal:

 

The mechanistic target of rapamycin (mTOR), a serine-threonine kinase, plays a pivotal role in regulating cell growth and proliferation. Notably, a great deal of evidence indicates that mTOR signaling is also crucial in controlling proliferation and differentiation of several stem ...

Last Updated: 31 Dec 1969

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Two Cases of Tuberous Sclerosis Complex Suggestive of Complicating Multifocal Micronodular Pneumocyte Hyperplasia: A Case Report.
 

Author(s): Chinatsu Nishida, Kazuhiro Yatera, Takashi Kido, Shingo Noguchi, Kentaro Akata, Minako Hanaka, Kei Yamasaki, Teppei Hoshino, Masayuki Shimono, Hiroshi Ishimoto, Noriho Sakamoto, Hiroshi Mukae

Journal: J. UOEH. ;39(2):133-141.

 

Multifocal micronodular pneumocyte hyperplasia (MMPH) is pathologically characterized by multifocal nodular hyperplasia of type Ⅱ pneumocyte-like cells. MMPH is usually complicated with tuberous sclerosis complex (TSC). MMPH patients tend to be asymptomatic or only slightly symptomatic. ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Studies in Patients With Tuberous Sclerosis Complex
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex

 

Last Updated: 9 Mar 2018

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Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex

 

Last Updated: 16 May 2018

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