Tuberous sclerosis

Common Name(s)

Tuberous sclerosis

Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). Some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). Tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the TSC1 or TSC2 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
CNS Foundation

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

Last Updated: 12 Oct 2013

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

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" for support, advocacy or research.

Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

TSC Facebook Discussion Group

Online discussion group for anyone affected by tuberous sclerosis complex.

Updated 26 Oct 2012

Go To URL
 
 
Top

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" returned 486 free, full-text research articles on human participants. First 3 results:

Percutaneous cryoablation for tuberous sclerosis-associated renal angiomyolipoma with neoadjuvant mTOR inhibition.
 

Author(s): Thierry Krummel, Julien Garnon, Hervé Lang, Afshin Gangi, Thierry Hannedouche

Journal:

 

Renal angiomyolipomas (AMLs) are frequent in tuberous sclerosis and are responsible for a significant proportion of the morbidity in adulthood, mainly from bleeding complications, which are correlated to the size of the AMLs. We describe the case of a 19-year-old female with multiple ...

Last Updated: 29 Sep 2014

Go To URL
Tuberous sclerosis presenting with acute kidney failure, pyelonephritis, and polycystic kidney disease.
 

Author(s): Masoumeh Mohkam, Shirin Shohadaii, Farshid Kompani, Hamid Reza Aghadoost, Seyed Ali Hojati, Nasrin Esfandiar

Journal: Iran J Kidney Dis. 2014 Jul;8(4):336-40.

 

Tuberous sclerosis complex (TSC) is a multisystemic inherited autosomal dominant disease characterized by the development of hamartomas in the brain and kidneys. In about 2% of patients, polycystic kidney disease is present, which may result in different stages of renal insufficiency. ...

Last Updated: 8 Jul 2014

Go To URL
[Therapeutic possibilities in refractory epilepsy in tuberous sclerosis complex].
 

Author(s): Verónica Puertas-Martin, Inmaculada Carreras-Saez, Ana Marana, M Luz Ruiz-Falco Rojas, Verónica Cantarin-Extremera, M Lourdes Calleja-Gero

Journal: Rev Neurol. 2014 Jun;58(12):529-35.

 

Tuberous sclerosis complex (TSC) is frequently accompanied by difficult-to-treat epilepsy, which conditions these patients' quality of life and cognitive level. AIM. To describe the epidemiological and clinical characteristics, as well as the treatment of patients affected by TSC with epilepsy.

Last Updated: 11 Jun 2014

Go To URL

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" returned 50 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

Go To URL
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

Go To URL
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.
 

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

Journal: Pediatr. Neurol.. 2013 Oct;49(4):243-54.

 

Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although ...

Last Updated: 23 Sep 2013

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
Top

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

Go to URL
Study of Skin Tumors in Tuberous Sclerosis
 

Status: Recruiting

Condition Summary: Hereditary Neoplastic Syndrome; Tuberous Sclerosis

 

Last Updated: 12 Mar 2015

Go to URL
Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers
 

Status: Not yet recruiting

Condition Summary: Renal Angiomyolipomas; Tuberous Sclerosis

 

Last Updated: 29 Oct 2014

Go to URL