Tuberous Sclerosis

What is Tuberous Sclerosis?

Tuberous sclerosis, sometimes called tuberous sclerosis complex or TSC, is a rare genetic disorder that leads to the formation of benign tumors throughout many areas of the body. While the tumors themselves are not dangerous, they can cause other serious problems.

The condition is usually first seen in infancy or childhood, although sometimes it is so mild that some patients are not diagnosed until they are adults. Sometimes it even goes undiagnosed. Conversely, the disorder can leave some people with severe disabilities.

Tuberous sclerosis may be inherited, or it can be the result of a spontaneous mutation within a person’s genetic makeup. Children who have a parent with the disorder have a fifty percent chance of inheriting it themselves. It affects the TSC1 or TSC2 genes, which are believed to be responsible for preventing cells from growing uncontrolled or too quickly.

Such a mutation can cause the cells to divide at an abnormally fast rate, leading to the formation of tumors.

What are the Symptoms of Tuberous Sclerosis?

Symptoms of tuberous sclerosis vary greatly and depend largely on the location of the tumors and how severely it affects the patient. Depending on individual circumstance, people may experience: different symptoms.

Symptoms include:

  • Skin abnormalities
  • Developmental delays
  • Seizures
  • Behavioral problems
  • Kidney lesions
  • Heart issues
  • Lung problems
  • Difficulties with social interaction and communication
  • Eye abnormalities
  • Intellectual disabilities
  • Abnormal heart rhythm
  • Calcium deposits in the brain
  • Pitted teeth
  • Red patches on the face

Tuberous Sclerosis Causes

Tuberous sclerosis (tuberous sclerosis complex TSC) is a genetic disorder that develops in the embryonic phase. Parents carrying the gene have a 50 per cent chance of passing the condition on to their offspring. Family members carry only one gene inherited in an autosomal dominant manner.

There are two known genes associated with TSC. When a copy of one is altered, tumors and abnormal tissues grow throughout the body. The tumors are not selective in their location, most cases experience struggles with multiple biological systems afflicting the skin, brain, heart, lungs, kidneys and eyes. The condition’s abnormalities also affect the loss of physical and neurological functions.

Families with a history of TSC, whether parents are showing signs of the disease or not, need to be tested. There are instances where a parent has no idea they are a carrier. Genetic testing may confirm the presence of the mutated gene, but its severity is not possible.

How is Tuberous Sclerosis Treated?

There is currently no known cure for tuberous sclerosis, so therapies focus on treating the symptoms. Likewise, due to the wide variety of locations and types of symptoms, there is no universal treatment.

A medical professional will assess the situation and create a treatment plan that meets the needs of each individual patient. Regular lifelong follow-up exams will monitor the condition, and treatment may be altered if the disorder changes.

Tuberous Sclerosis Prevention

There is no cure for TSC, but there are treatments to reduce the symptoms and prevent further complications from developing. Depending on the severity of the condition and the age of the person, health management and special care treatments are necessary. As soon as the diagnosis is complete, treatment should begin.

For parents considering children, learn as much as you can about the condition. If you are a parent carrier of the gene, talk with your doctor about prenatal DNA testing. It’s critical to discuss the health risks to the developing fetus before deciding to be tested. Your doctor or a TSC specialist can provide information associated with your family’s history and the risks of having a child with TSC.

Last Reviewed:
October 11, 2016
Last Updated:
September 10, 2017