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Diseases and Conditions › Genetics › Tuberous Sclerosis

Tuberous Sclerosis
Ira Shah
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Tuberous Sclerosis - Introduction
Tuberous sclerosis is a complex genetic disorder (a disease that occurs due to some defect in the genes) that is characterized by skin lesions, nervous system affectation and renal involvement primarily. The name is derived from tuber - like growths on the brain that become hard. These tubers are seen as white areas on a CT Scan of the brain. These abnormal growths can affect any organ of the body (even the eyes, kidneys, heart and the lungs).

EVERY INDIVIDUAL WITH TUBEROUS SCLEROSIS IS AFFECTED DIFFERENTLY. SOME INDIVIDUALS ARE TOTALLY UNAFFECTED WHEREAS SOME PEOPLE ARE MORE SEVERELY AFFECTED.

Out of every 6000 newborns, one may have tuberous sclerosis. More than 1 million people around the world are known to have tuberous sclerosis. These may still be many undiagnosed cases and mild forms of the disease.

Tuberous sclerosis is a genetic disorder (due to errors in the genes). Children have a 50% chance of inheriting tuberous sclerosis if one of the parents have this condition. However 2/3rd of the cases are due to spontaneous genetic errors, the cause of which is still a mystery.

In tuberous sclerosis, there is a growth of normal body tissue in a disorganized way (hamartomas). They interfere with the functioning of the organ in which they are growing. When the person becomes an adult, the growth of the organ and the hamartoma stops. As a result, most patients have a normal life span. However, there may be occasional serious problems (kidney, lung or brain tumours) that need to be dealt with later in life.
References
Tuberous Sclerosis Tuberous Sclerosis 02/27/2001
Tuberous Sclerosis - Presentation >>
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