Tuberous sclerosis is a hereditary disorder that causes abnormalities in the brain, changes in the skin and sometimes tumors to develop in vital organs, such as the heart and lungs.

• Children may have abnormal skin growths, seizures, delayed development, learning disorders, or behavioral problems and may be intellectually impaired or autistic.
• Life expectancy is usually unaffected.
• Because the disorder is lifelong, people must be monitored for their entire life.
• Doctors suspect the disorder based on symptoms and do imaging tests to check for tumors and sometimes do genetic tests.
• Treatment focuses on relieving symptoms.

Tumors or other abnormal growths develop in several organs, such as the heart, lungs, kidneys, eyes, and skin. The tumors are usually noncancerous (benign). The disorder is named for the typical long and narrow tumors in the brain, which resemble roots or tubers.

Tuberous sclerosis is usually present at birth, but symptoms may be subtle or take time to develop, making the disorder difficult to recognize early.

Several genes involved in the disorder have been identified. If either parent has the disorder, children have a 50% chance of having it. However, tuberous sclerosis usually results from new mutations in the gene, rather than an inherited abnormal gene.

Symptoms

Tuberous sclerosis may cause seizures, mental retardation/intellectual disability, autism, delayed development of motor or language skills, learning disorders, or behavioral problems (such as hyperactivity and aggression).

The first symptom may be infantile spasms, a type of seizure (see Neurologic Disorders in Children: Infantile Spasms). Some children have kidney tumors, which can cause high blood pressure, abdominal pain, and blood in the urine. Kidney cancer can also occur.

The skin is often affected, sometimes causing disfigurement:

• Light-colored, ash-leaf–shaped patches may appear on the skin during infancy or early childhood.
• Rough, raised patches resembling orange peel, usually on the back, may be present at birth.
• Medium-brown, freckle-like (café-au-lait) spots may also develop.
• Red lumps consisting of blood vessels and fibrous tissue (angiofibromas) may appear on the face later during childhood.
• Small fleshy bumps may grow around and under the toenails and fingernails at any time during childhood or early adulthood.

How well affected people do depends on how severe the symptoms are. If symptoms are mild, infants generally do well and grow up to live long, productive lives. If symptoms are severe, infants may have serious disabilities. Nonetheless, most children continue to develop, and life expectancy is not affected. Because tuberous sclerosis is a lifelong disorder, affected people must be closely monitored for the rest of their life.

Diagnosis

Doctors may suspect the diagnosis based on symptoms, such as seizures, delayed development, or typical skin growths. An eye examination (with ophthalmoscopy) is done to check for eye abnormalities. Magnetic resonance imaging (MRI) or ultrasonography is done to check for tumors in various organs.

Genetic testing may be done for the following reasons:

• To confirm the diagnosis when symptoms suggest it
• To determine whether people who have a family history of the disorder but who do not have symptoms have the abnormal gene
• To check for the disorder before birth (prenatal diagnosis) if the family history includes the disorder

Ultrasonography may be done before birth to check for heart or brain tumors in a fetus.

Treatment

Treatment focuses on relieving symptoms:

• For seizures: Anticonvulsants may be used. Sometimes if drugs are ineffective, surgery is done to remove a tumor or to remove a small part of the brain that is involved in causing the seizures.
• For high blood pressure: Antihypertensive drugs may be used, or surgery may be done to remove kidney tumors.
• For behavioral problems: Behavior management techniques (including time-outs and consistent use of appropriate consequences and praise) may help. Sometimes drugs are needed.
• For developmental delays: Special schooling or physical, occupational, or speech therapy may be recommended.
• For skin growths: They may be removed with dermabrasion (rubbing the skin with an abrasive metal instrument to remove the top layer) or lasers.

Genetic counseling is recommended for affected people and family members when they are considering having children.

Last full review/revision February 2009 by Margaret C. McBride, MD