Tuberous sclerosis symptoms include noncancerous lesions that grow in many parts of the body, such as in the skin, brain and kidneys. Lesions may be referred to as hamartias or hamartomas. Sometimes lesions grow in other parts of the nervous system or in the heart, lungs or the light-sensitive tissue at the back of the eye (retina). Tuberous sclerosis signs and symptoms vary, depending on where the lesions develop:
- Skin abnormalities. Many people who have tuberous sclerosis develop patches of light-colored skin, areas of thickened skin, or growths under or around the nails. Facial lesions that resemble acne also are common.
- Neurological symptoms. Lesions in the brain can be associated with seizures, intellectual disability, learning disabilities or developmental delays. Behavior problems, such as hyperactivity and aggression, may occur. Some children who have tuberous sclerosis have trouble with communication and social interaction, and in some cases may be autistic.
- Kidney problems. If lesions develop in the kidneys, potentially serious — even life-threatening — kidney problems are possible. Rarely, kidney lesions may become cancerous.
- Lung problems. Lesions that develop in the lungs (pulmonary leiomyomas) may cause coughing or shortness of breath. Progression to lung failure during adulthood is possible.
For some people, the signs and symptoms of tuberous sclerosis are noticed at birth. For others, the first signs and symptoms of tuberous sclerosis become evident during childhood or even years later.
When to see a doctor
Contact your child's doctor if you're concerned about your child's development or you notice any signs of tuberous sclerosis:
Nov. 01, 2011
- Patches of light-colored skin
- Facial lesions
- Seizures, including those in which your baby repeatedly brings his or her legs up to the chest (infantile spasms)
- Tuberous sclerosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm. Accessed Oct. 4, 2011.
- Seibert D, et al. Recognition of tuberous sclerosis in adult women: Delayed presentation with life-threatening consequences. Annals of Internal Medicine. 2011;154:806.
- Tuberous sclerosis complex. http://www.uptodate.com/home/index.html. Accessed Oct. 5, 2011.
- My child has tuberous sclerosis: A brochure for parents. Tuberous Sclerosis Alliance. http://www.tsalliance.org/publications/52810_NTSA.pdf. Accessed Oct. 4, 2011.
- Tuberous sclerosis complex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed Oct. 4, 2011.
- DeKlotz CMC, et al. Dramatic improvement of facial angiofibromas in tuberous sclerosis with topical rapamycin: Optimizing a treatment protocol. Archives of Dermatology. 2011;147:1116.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 8, 2011.
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