Tuberous sclerosis

DEFINITION

Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis complex, is a rare genetic disease that causes noncancerous (benign) tumors to grow in many parts of the body. The signs and symptoms of tuberous sclerosis vary widely, depending on where the tumors develop and how severely a person is affected.

Tuberous sclerosis is often detected during infancy or childhood. Some people with tuberous sclerosis have such mild signs and symptoms that the condition isn’t diagnosed until adulthood, or it goes undiagnosed. Others experience serious disabilities.

Although there’s no cure for tuberous sclerosis, treatments are being studied. The course or severity of the disease can’t be predicted, but with appropriate care, many people who have tuberous sclerosis lead full, productive lives.

CAUSES

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.

SYMPTOMS

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.

When to see a doctor

Signs and symptoms of tuberous sclerosis may be noticed at birth. Or the first signs and symptoms of tuberous sclerosis may become evident during childhood or even years later in adulthood.

Contact your child’s doctor if you’re concerned about your child’s development or you notice any of the signs or symptoms of tuberous sclerosis described above.