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

Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex.
 

Author(s): Steven Sparagana, David N Franz, Darcy A Krueger, John J Bissler, Noah Berkowitz, Karin Burock, J Christopher Kingswood

Journal:

 

To determine the impact of everolimus on female fertility, including menstrual irregularities, secondary amenorrhea, and luteinizing and follicle stimulating hormone levels in female patients.

Last Updated: 31 Dec 1969

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Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study.
 

Author(s): John J Bissler, J Chris Kingswood, Elzbieta Radzikowska, Bernard A Zonnenberg, Elena Belousova, Michael D Frost, Matthias Sauter, Susanne Brakemeier, Petrus J de Vries, Noah Berkowitz, Maurizio Voi, Severine Peyrard, Klemens Budde

Journal:

 

We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.

Last Updated: 31 Dec 1969

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Tuberous Sclerosis Complex.
 

Author(s): Michele Marchini, Elisabetta Giglio

Journal: N. Engl. J. Med.. 2017 May;376(20):e42.

 

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

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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Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patients with Tuberous Sclerosis Complex.
 

Author(s): Filipe Palavra, Conceição Robalo, Flávio Reis

Journal: Oxid Med Cell Longev. 2017 ;2017():9820181.

 

Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of benign, noninvasive, and tumor-like lesions called hamartomas that can affect multiple organ systems and are responsible for the clinical features of the disease. In the majority of cases, TSC ...

Last Updated: 31 Dec 1969

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Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role.
 

Author(s): Michael A Cardis, Cynthia Marie Carver DeKlotz

Journal: Arch. Dis. Child.. 2017 Sep;102(9):858-863.

 

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 19 Feb 2016

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Studies in Patients With Tuberous Sclerosis Complex
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex

 

Last Updated: 5 Sep 2017

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Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex

 

Last Updated: 24 May 2017

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