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| DiseaseID |
HGD31 |
| Genetic
Disorder |
Tuberous sclerosis
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| Gene
Name |
TSC1 and TSC2 genes |
| Description |
Tuberous sclerosis is a rare genetic disease that causes noncancerous (benign) tumors to grow in many parts of the body, such as the skin, brain and kidneys. The signs and symptoms of tuberous sclerosis vary — from patches of light-colored skin to seizures or behavior problems — depending on where the tumors develop.
Some people who have tuberous sclerosis have such mild signs and symptoms that the condition goes undiagnosed. Others experience serious disabilities. There's no cure for tuberous sclerosis, and there's no way to predict the course or severity of the disease. With appropriate treatment, however, many people who have tuberous sclerosis lead full, productive lives.
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| Symptoms |
Tuberous sclerosis causes noncancerous tumors to grow in many parts of the body, such as the skin, brain and kidneys. Sometimes tumors 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). The signs and symptoms of tuberous sclerosis vary, depending on where the tumors 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. Tumors in the brain can be associated with seizures, mental retardation, 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, much like children who have autism.
? Kidney problems. If tumors develop in the kidneys, potentially serious — even life-threatening — kidney problems are possible. Rarely, kidney tumors may become cancerous.
? Lung problems. Tumors that develop in the lungs may cause coughing or shortness of breath. Progression to lung failure during adulthood is possible.
Some people have signs and symptoms of tuberous sclerosis at birth. Others notice the first signs and symptoms of tuberous sclerosis during childhood or even years later. If signs and symptoms are mild, the condition may go undiagnosed.
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| Causes |
Tuberous sclerosis is a genetic disease caused by mutations in the TSC1 and TSC2 genes. Normally, these genes are thought to prevent cells from growing too fast or in an uncontrolled manner. Mutations in these genes can cause cells to divide excessively, which leads to numerous tumors throughout the body. Researchers don't know what causes these genetic mutations. |
| Diagnosis |
A number of tests are often needed to diagnose tuberous sclerosis. For example:
? Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to create cross-sectional images of the brain or other parts of the body.
? Computerized tomography (CT). This is an X-ray technique that produces images of the brain or other parts of the body. CT images are more detailed than those produced by conventional X-ray exams.
? Ultrasound. This test uses high-frequency sound waves to create images of certain body parts, such as the kidneys, on a monitor.
? Electroencephalogram (EEG). This test records electrical activity in the brain.
? Echocardiogram. This test uses sound waves to produce images of the heart.
? Electrocardiogram (ECG). This test records the electrical activity of the heart.
Thorough eye and skin exams may be needed, too.
If a child is diagnosed with tuberous sclerosis without a family history of the condition, both parents may consider screening for tuberous sclerosis as well. Follow-up care and monitoring is important, even for mild cases of tuberous sclerosis that were previously undiagnosed.
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| Treatment |
There's no cure for tuberous sclerosis, but treatment can help manage specific signs and symptoms. For example:
? Medication. Anti-epileptic drugs may be prescribed to control seizures, and other medications may be prescribed to help manage behavior problems.
? Educational therapy. Early intervention can help children overcome developmental delays and meet their full potential in the classroom.
? Occupational therapy. Through occupational therapy, a person who has tuberous sclerosis can improve his or her ability to handle daily tasks.
? Surgery. If a tumor affects the ability of a specific organ — such as the kidney — to function, the tumor may be surgically removed. Sometimes surgery can help control seizures that don't respond to medication. Surgical procedures such as dermabrasion or laser treatment may improve the appearance of skin lesions.
Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up. With appropriate treatment, however, many people who have tuberous sclerosis lead full, productive lives and enjoy a normal life expectancy. |
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