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What is tuberous sclerosis?

Tuberous sclerosis is a very serious genetic disease, which is characterized mainly by the noncancerous tumors which grow in different parts of the body, but mostly in brain, skin, lungs and kidneys. It is a result of the mutation of particular genes, which are supose to prevent too fast growth of the cells, but it is not known what the cause of the gene mutation is. Even though it is very rare, this disease can be detected very early, in infancy even, but the fact is that, due to the incredibly mild symptoms, in some cases this disease may even go unnoticed and undiagnosed.

Unfortunately, the treatment is impossilbe, because there is no known cure to this disease, but the majority of the symptoms can be kept under control, so that the people who suffer from this disease may lead more or less normal life. When it comes to people who have this abnormality in their genes, they should be aware that they have 50 % of the chances they will pass it to their children, and there is no guarantee that the parent with milder symptoms will have a child with mild symptoms as well.

What are the symptoms of tuberous sclerosis?

Since, noncancerous growths can appear in various parts of the body, the symptoms generally depend on the location of the tumors. If they are located on skin, the main symptoms will be patches of lighter skin, growths either around the nails or under them, facial lesions that may look like acne, and parts of the thickened skin. However, if the tumors affect brain, this condition may lead to seizures, disabilities regarding learning, problems with communication, and even mental retardation. Some children with this condition may even be autistic, while some may be more aggressive or hyperactive.

Lung problems that may result from tubeorus sclerosis are coughing and shorthness of breath, although, it is not rare that in the future, this condition may lead to lung failure. The possible complications also depend on the location of the tumors, so, for example, if they block the flow of spinal fluid in the brain, certain behavioral changes, as well as headaches and nausea are likely to occur, whereas, if they block the flow of the blood, problems with heart rhythm may occur. The consequences may affect the vision as well, or the tumors in the kidneys may become cancerous. There are various ways in which this condition can be dignosed, which is why it is important to take the child to the doctor if some of the worrying signs are noticed.

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