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Alternative namesAdenoma sebaceum
DefinitionTuberous sclerosis is a group of two genetic disorders characterized by problems with the skin, brain/nervous system, and kidneys, and a predisposition to tumors. The diseases are named after a characteristic abnormal growth in the brain, which takes the shape of a tuber or root.
Causes, incidence, and risk factors
Tuberous sclerosis is inherited as an autosomal dominant trait (only one parent must pass on the bad gene for the child to get the disease). However, a high percentage of cases are due to new mutations (which occur in the sperm or egg of one of the parents that created the particular child), so there usually is no family history of the disease.
It is one of a group of diseases described as neuro-cutaneous syndromes because of extensive involvement of both the skin and the central nervous system (brain and/or spinal cord). The symptoms of tuberous sclerosis, however, vary considerably from minimally affected people with normal intelligence and no seizures to severely affected people with profound retardation and frequent, difficult-to-control seizures or serious tumors.
Severely affected people may develop seizures shortly after birth. These are characterized by infantile spasms (hypsarrhythmia). Mental retardation becomes evident as infants begin to miss their normal developmental milestones .
Infants may have heart tumors (rhabdomyoma), which can be detected by ultrasound. These tumors may grow or shrink and usually do not cause problems.
The incidence is approximately 1 in 25,000-30,000 births. 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.
Signs and tests
There is no specific treatment for tuberous sclerosis. Treatment is tailored to the symptoms. Seizure medications are required for controlling seizures , which is often difficult. Special schooling or care is determined by the severity of mental retardation .
Adenoma sebaceum (small growths) on the face may be removed by laser treatment. These lesions tend to recur and repeat treatments will be necessary.
Heart tumors called rhabdomyomas commonly disappear after puberty so surgery is usually not necessary. Regular ultrasound of kidneys is important screening for adults to make that sure tumors do not grow.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT