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.
Nov. 25, 2014
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 28, 2014.
- Tuberous sclerosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm. Accessed Sept. 23, 2014.
- Tuberous sclerosis complex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed Sept. 23, 2014.
- Tuberous sclerosis. National Organization for Rare Disorders. https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/35/viewFullReport. Accessed Sept. 23, 2014.
- Owens J, et al. Tuberous sclerosis complex: Genetics, clinical features, and diagnosis. http://www.uptodate.com/home. Accessed Sept. 23, 2014.
- Owens J, et al. Tuberous sclerosis complex: Management. http://www.uptodate.com/home. Accessed Sept. 23, 2014.
- Krueger DA, et al. Tuberous sclerosis complex surveillance and management: Recommendation of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 2013;49:255.
- About TSA. Tuberous Sclerosis Alliance. http://www.tsalliance.org/. Accessed Sept. 30, 2014.
- Hand JL (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 4, 2014.
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