Learn About Tuberous Sclerosis

What is the definition of Tuberous Sclerosis?

Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, heart, and lungs. The condition can also cause tumors to grow in the brain. These tumors have a tuber or root-shaped appearance.

Save information for later
Sign Up
What are the alternative names for Tuberous Sclerosis?

Bourneville disease

What are the causes of Tuberous Sclerosis?

Tuberous sclerosis is an inherited condition. Changes (mutations) in one of two genes, TSC1 and TSC2, are responsible for most cases.

Only one parent needs to pass on the mutation for the child to get the disease. However, two-thirds of cases are due to new mutations. In most cases, there is no family history of tuberous sclerosis.

This condition is one of a group of diseases called neurocutaneous syndromes. Both the skin and central nervous system (brain and spinal cord) are involved.

There are no known risk factors, other than having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.

What are the symptoms of Tuberous Sclerosis?

Skin symptoms include:

  • Areas of the skin that are white (due to decreased pigment) and have either an ash leaf or confetti appearance
  • Red patches on the face containing many blood vessels (facial angiofibromas)
  • Raised patches of skin with an orange-peel texture (shagreen spots), often on the back

Brain symptoms include:

  • Autism spectrum disorders
  • Developmental delays
  • Intellectual disability
  • Seizures

Other symptoms include:

  • Pitted tooth enamel.
  • Rough growths under or around the fingernails and toenails.
  • Rubbery noncancerous tumors on or around the tongue.
  • Lung disease known as LAM (lymphangioleiomyomatosis). This is more common in women. In many cases, there are no symptoms. In other people, this can lead to shortness of breath, coughing blood, and lung collapse.

The symptoms vary from person to person. Some people have normal intelligence and no seizures. Others have intellectual disabilities or difficult-to-control seizures.

Not sure about your diagnosis?
Check Your Symptoms
What are the current treatments for Tuberous Sclerosis?

There is no known cure for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.

  • Depending on the severity of the intellectual disability, the child may need special education.
  • Some seizures are controlled with medicine (vigabatrin). Other children may need surgery.
  • Small growths on the face (facial angiofibromas) may be removed by laser treatment. These growths tend to come back, and repeat treatments will be needed.
  • Cardiac rhabdomyomas commonly disappear after puberty. Surgery to remove them is usually not needed.
  • Brain tumors can be treated with medicines called mTOR inhibitors (sirolimus, everolimus).
  • Kidney tumors are treated with surgery, or by reducing the blood supply using special x-ray techniques. mTOR inhibitors are being studied as another treatment for kidney tumors.
Who are the top Tuberous Sclerosis Local Doctors?
Elite
Elite
 
 
 
 
Learn about our expert tiers
Learn more
Elite
What are the support groups for Tuberous Sclerosis?

For additional information and resources, contact the Tuberous Sclerosis Alliance at www.tsalliance.org.

What is the outlook (prognosis) for Tuberous Sclerosis?

Children with mild tuberous sclerosis most often do well. However, children with severe intellectual disability or uncontrollable seizures often need lifelong assistance.

Sometimes when a child is born with severe tuberous sclerosis, one of the parents is found to have had a mild case of tuberous sclerosis that was not diagnosed.

The tumors in this disease tend to be noncancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.

What are the possible complications of Tuberous Sclerosis?

Complications may include:

  • Brain tumors (astrocytoma)
  • Heart tumors (rhabdomyoma)
  • Severe intellectual disability
  • Uncontrollable seizures
When should I contact a medical professional for Tuberous Sclerosis?

Call your health care provider if:

  • Either side of your family has a history of tuberous sclerosis
  • You notice symptoms of tuberous sclerosis in your child

Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.

How do I prevent Tuberous Sclerosis?

Genetic counseling is recommended for couples who have a family history of tuberous sclerosis and who want to have children.

Prenatal diagnosis is available for families with a known gene mutation or history of this condition. However, tuberous sclerosis often appears as a new DNA mutation. These cases are not preventable.

Tuberous sclerosis, angiofibromas  - face
Tuberous sclerosis - hypopigmented macule
What are the latest Tuberous Sclerosis Clinical Trials?
Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

Summary: Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors ...

Match to trials
Find the right clinical trials for you in under a minute
Get started
Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates

Summary: This is a physiopathological case-control, non-interventional, monocentric study of adult patients with lymphangioleiomyomatosis. The controls are patients followed in neurology at the CHU of Tours for a tuberous sclerosis complex without lymphangioleiomyomatosis, the healthy volunteers are women with neither pulmonary nor renal pathology and recruited at the clinical investigation centre of the C...

What are the Latest Advances for Tuberous Sclerosis?
Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database.
Tuberous sclerosis complex with skin lesions as the initial presentation: A case report and multidisciplinary discussion.
Tired of the same old research?
Check Latest Advances
Cannabidiol for the treatment of refractory epilepsy in children: a critical review of the literature.
Who are the sources who wrote this article ?

Published Date: July 21, 2020
Published By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

National Institute of Neurological Disorders and Stroke website. Tuberous sclerosis fact sheet. NIH publication 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Updated March 2020. Accessed November 3, 2020.

Northrup H, Koenig MK, Pearson DA, et al. Tuberous sclerosis complex. GeneReviews. Seattle (WA): University of Washington, Seattle; July 13, 1999. Updated April 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.

Tsao H, Luo S. Neurofibromatosis and tuberous sclerosis complex. In: Bolognia JL, Schaffer JV, Cerroni L, et al, eds. Dermatology. 4th ed. Philadelphia, PA: Elsevier; 2018:chap 61.