Tuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. The diseases are named after a tuber- or root-shaped growth in the brain.
Tuberous sclerosis is inherited. Changes (mutations) in two genes, TSC1 and TSC2, are responsible for most cases of the condition.
Only one parent needs to pass on the mutation for the child to get the disease. However, most cases are due to new mutations, so there usually is no family history of tuberous sclerosis.
This condition is one of a group of diseases called neurocutaneous syndromes. Both the skin and central nervous system (brain and spinal cord) are involved.
There are no known risk factors, other than having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.
Skin symptoms include:
Brain symptoms include:
The symptoms of tuberous sclerosis vary from person to person. Some people have normal intelligence and no seizures. Others have intellectual disabilities or difficult-to-control seizures.
Signs may include:
Tests may include:
DNA testing for either of the two genes that can cause this disease (TSC1 or TSC2) is available.
Regular ultrasound checks of the kidneys are an important screening tool to make sure there is no tumor growth.
There is no specific treatment for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.
For additional information and resources, contact the Tuberous Sclerosis Alliance at 800-225-6872.
Children with mild tuberous sclerosis usually do well. However, children with severe mental disability or uncontrollable seizures usually do poorly.
Sometimes when a child is born with severe tuberous sclerosis, one of the parents is found to have had a mild case of tuberous sclerosis that was not diagnosed.
The tumors in this disease tend to be noncancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.
Call your health care provider if:
Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.
Genetic counseling is recommended for couples who have a family history of tuberous sclerosis and who want to have children.
Prenatal diagnosis is available for families who are known to have a history of this condition. However, tuberous sclerosis often appears as a new DNA mutation, and these cases are not preventable.
Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 589.
Northrup H, Koenig MK, Au KS. Tuberous sclerosis complex. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
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