Tuberous Sclerosis
What is tuberous sclerosis?
Tuberous sclerosis is a genetic disorder characterised by the growth of numerous noncancerous tumours in many parts of the body. These tumours can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant medical problems.
The signs and symptoms of tuberous sclerosis vary according to the location of tumour growth. Virtually all affected people have skin abnormalities, including patches of unusually light-coloured skin, areas of raised and thickened skin, and growths under the nails. tumours on the face (facial angiofibromas) are also common, beginning in childhood. Many people with tuberous sclerosis have noncancerous brain tumours. Neurologic symptoms can include seizures, behavioural problems such as hyperactivity and aggression, and mental retardation or learning disabilities. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Kidney tumours are also common in people with tuberous sclerosis; these growths can cause serious problems with kidney function and may be life-threatening in some cases. Additionally, tumours can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).
How common is tuberous sclerosis?
Tuberous sclerosis affects about 1 in 6,000 people.
What genes are related to tuberous sclerosis?
Mutations in the TSC1 and TSC2 genes cause tuberous sclerosis.
The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely function together as a protein complex that helps regulate cell growth and size. The proteins act as tumour suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. Mutations in either the TSC1 or TSC2 gene lead to the production of a nonfunctional version of hamartin or tuberin. As a result, cells can divide excessively to form the numerous tumours associated with tuberous sclerosis.
How do people inherit tuberous sclerosis?
Tuberous sclerosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About two thirds of cases result from new mutations in the TSC1 or TSC2 gene. These cases occur in people with no history of tuberous sclerosis in their family. In the remaining cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis, while mutations in the TSC2 gene tend to occur more frequently in affected individuals with no family history of the disorder.
What other names do people use for tuberous sclerosis?
- Bourneville Disease
- Bourneville Phakomatosis
- cerebral sclerosis
- Epiloia
- sclerosis tuberosa
- tuberose sclerosis
- Tuberous sclerosis complex
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