Last Reviewed June 2, 2009
Symptoms & Characteristics
Tuberous sclerosis (also called tuberous sclerosis complex) is a genetic condition that causes numerous non-cancerous tumors to form in many different organs - primarily in the skin, brain, eyes (particularly the retina), heart, kidney, and lungs.
Symptoms vary from mild to severe depending on the location of the tumors. Common symptoms include:
- skin problems, such as unusually light patches (called shagreen patches) or thickened, raised skin
- facial tumors (called facial angiofibromas)
- benign cardiac tumors called rhabdomyomas (present frequently in affected newborns)
- behavioral problems (like hyperactivity and aggression)
- learning disabilities or autism
- kidney problems and disease
While some people have signs of tuberous sclerosis at birth, other people do not have signs until adolescence or adulthood. Symptoms even vary among affected members of the same family. In some cases, symptoms may be life-threatening.
Treatment
There is currently no cure for tuberous sclerosis. However, early diagnosis, routine surveillance and treatment can help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
About 50,000 Americans are affected with tuberous sclerosis.
Genetics & Inheritance
Tuberous sclerosis is caused by mutations in either the TSC1 gene on chromosome 9 at the location q34 or the TSC2 gene on chromosome 16 at the location p13.3
We all have two copies of both the TSC1 and TSC2 genes - one from each parent. In tuberous sclerosis, having a mutation in a single copy is sufficient enough to cause the disease. This is called autosomal dominant inheritance.
- About 60% of affected people are the first one in their family to be affected. Their mutation is a result of a sporadic, new ("de novo") mutation.
- An affected person has a 50% chance with each pregnancy to have an affected child.
Due to the wide range of symptoms, parents of an affected person may want to consider genetic evaluations and genetic testing for tuberous sclerosis themselves. The benefits and limitations of such evaluations and testing should be discussed with a qualified health care professional.
- If both parents have negative genetic testing followed by normal genetic exams, recurrence risk to have another affected child may still be increased over the general population, about 1-3%. This may be due to a complex concept called germline mosaicism in which some of a person's egg or sperm cells may have a disease causing mutation, while the rest of the cells in their body do not.
There are other genetic conditions that have features that overlap with tuberous sclerosis. A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.
Genetic Testing
Clinical genetic testing for tuberous sclerosis may be available through an in person genetic consultation for people who are considered at risk.
- Of note, about 20-30% of people with a clinical diagnosis of tuberous sclerosis do not have an identifiable mutation.
Use our find a genetic professional directory to locate a trained
genetic professional in your area.
Support & More Information
More information can be found at:
Support can be found at:
Alternative Names
- Bourneville Disease
- Bourneville Phakomatosis
- cerebral sclerosis
- Epiloia
- sclerosis tuberosa
- tuberose sclerosis
- Tuberous sclerosis complex