What Is Tuberous Sclerosis?

Tuberous sclerosis is a disease that afflicts up to 2 million people in the world. Nonmalignant tumors form in body organs as a result of this disease, causing many problems and symptoms. Tuberous sclerosis can be diagnosed in quite a few people by the age of 2, but a lot of tuberous sclerosis symptoms manifest over a long period of time. The disease can be inherited, but this is not usually the case. Unless symptoms are mild, people with tuberous sclerosis may be afflicted with severe disabilities and are at risk of dying from this disease.

Symptoms

Besides benign tumors in body organs, other symptoms of tuberous sclerosis are seizures, mental retardation and problems with behavior and the skin. Behavior problems may be in the form of aggression, rage, attention deficit hyperactivity disorder, obsessive-compulsive disorder or autism.

Kidneys

Someone with tuberous sclerosis may develop small cysts and angiomyolipomas in the kidneys. A small percentage of people will have cysts that bleed. Those people who have angiomyolipomas may have no symptoms of these nonmalignant growths, but these growths can become large, bleed, be painful, cause near-death situations and kidney failure. Renal cell carcinoma can result from angiomyolipoma.

Brain Tumors

Brain tumors caused by tuberous sclerosis may form in different areas of the brain that can result in fluid buildup. This can cause headaches and vision problems.

Other Tumors

Tuberous sclerosis may cause other types of tumors to form. One type of tumor recognized as cardiac rhabdomyomas is frequently found in babies and youngsters with the disease. Fortunately, if complications don't arise, cardiac rhabdomyomas shrink and cause no further problems. Phakomas tumors may form in the eyes and show up as patches of white. Tumors and cysts may also show up in the liver, lungs, pancreas and bones.

Skin Conditions

Skin problems that occur as a result of tuberous sclerosis are light or white skin blotches (hypomelanic macules), red facial spots or lumps (facial angiofibromas), skin on the forehead that is thick and abnormal in color (forehead plaques), patches of rough skin (shagreen patches), skin tags (moluscum fibrosum), brown spots (café au lait spots) and a small area of white hair (poliosis).

Treatment

Although tuberous sclerosis cannot be cured, treatment and/or medication can be rendered for seizures, behavior problems and skin problems.