Tuberous sclerosis symptoms include noncancerous tumors or other lesions that grow in many parts of the body, but most commonly in the brain, kidneys, heart, lungs and skin. Symptoms can range from mild to severe.
Tuberous sclerosis signs and symptoms vary, depending on where the tumors or other lesions develop:
- Skin abnormalities. Some people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened skin, or growths under or around the nails. Facial lesions that resemble acne also are common and can be treated.
- Seizures. Lesions in the brain may be associated with seizures, which can be the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm shows up as repetitive spasms of the head and legs.
- Developmental delays. Tuberous sclerosis can be associated with intellectual disability, learning disabilities or developmental delays.
- Behavior problems. Common behavior problems may include hyperactivity, raging outbursts, aggression, repetitive behaviors, or social and emotional withdrawal.
- Communication and social interaction problems. Some children with tuberous sclerosis have trouble with communication and social interaction. And some children may have autism spectrum disorder.
- Kidney problems. Most people with tuberous sclerosis develop lesions on their kidneys, and they may develop more lesions as they age, sometimes damaging kidney function.
- Heart problems. These lesions, if present, are usually largest at birth and shrink as the child gets older.
- Lung problems. Lesions that develop in the lungs (pulmonary leiomyomas) may cause coughing or shortness of breath, especially with physical activity or exercise.
- Eye abnormalities. Lesions can appear as white patches on the light-sensitive tissue at the back of the eye (retina). These do not always interfere with vision.
Tuberous sclerosis is a genetic disease caused by mutations in the TSC1 or TSC2 gene. Normally, these genes are thought to prevent cells from growing too fast or in an uncontrolled manner. Mutations in either of these genes can cause cells to divide excessively, which leads to numerous lesions throughout the body.
About one-third of people who have tuberous sclerosis inherit an altered TSC1 or TSC2 gene — the genes associated with tuberous sclerosis — from a parent who has the disease. About two-thirds of people who have tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene.
If you have tuberous sclerosis, you have up to a 50 percent chance of passing the condition to your biological children. Severity of the condition may vary. A parent who has tuberous sclerosis may have a child who has a milder or more severe form of the disorder.