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Tuberous sclerosis is a disease that usually affects the nerve cells and the skin. This type of disease is referred to as phakomatosis. Tuberous sclerosis is also known as Bourneville syndrome and is associated with the appearance of changes in the visual apparatus, lungs, heart, liver and kidneys. And although the disease itself is chronic, the changes that develop in these organs are non-cancerous. Tuberous sclerosis is a genetic disease associated with a mutation in the TSC1 gene. Despite the bothersome symptoms, it is possible to live with the disease – many people live to a very old age. About 7 people in Poland suffer from tuberous sclerosis.
Tuberous sclerosis – causes
As mentioned, the speech tuberous sclerosis it is conditioned mutation in the TSC1 gene. This gene is found on the 9th chromosome. The mutation that can determine the symptoms of the disease can also occur in the TSC2 gene – it is located on chromosome 16. The mutation of the TSC2 gene determines a much more severe course of the disease. Is that tuberous sclerosis is a genetic disease, it means that if one of the parents has it, there are 50% of them. the chances that the genotype of their offspring will also mutate. This is about 40 percent. cases of illness. The remaining 60 percent. cases include the phenomenon of the so-called fresh mutation, i.e. a situation where a gene changes spontaneously. Then it concerns mostly changes within the TSC2 gene on chromosome 16.
Tuberous sclerosis – symptoms
Tuberous sclerosis is a disease that, as mentioned, affects various organs such as the skin, eyes, kidneys, liver, lungs, heart and nervous system. Common symptoms of the disease are not easy to recognize, especially since many symptoms develop successively. The easiest way to notice skin changes is that they appear among the first. They are characterized by characteristic white spots on the skin (sometimes in the shape of a leaf), associated with a reduced amount of melanin in the skin cells of the affected area. They are most often found on the skin of the limbs and torso. This type of symptoms occurs in more than 96 percent. people suffering from tuberous sclerosis and may be present from birth or develop during childhood. However, it is not always a syndrome that is indicative of an illness. Later in the development of the disease, the so-called outbreaks of gray-brown skin. They cover the back and look like scars.
More symptoms they occur fairly quickly and are especially noticeable on the skin of the face. I am talking about Pringle’s nodules, otherwise known as angiofibromą, which are angiofibromas. They are reddish papules and quite symmetrically cover the nose and part of the cheeks. In turn, the so-called flat fibromas of yellowish color. In 90 percent children over 5 years of age have this symptom tuberous sclerosis it is very common.
On the limbs, periungual fibromas appear, on the feet and hands they are observed as nodules at the base of the nail plate. They are skin-colored or red.
However, as is known, tuberous sclerosis it does not only include changes in the skin, but also in other organs. This can include damage to the brain cells (the development of lumps around the ventricles of the brain), and as a result, there is a chance of developing symptoms of personality disorders, depression, mental retardation and even epilepsy. Tuberous sclerosis is a dangerous disease because the lumps that develop in its course may appear in the kidneys, heart, retina or liver.
Tuberous sclerosis – treatment
The basis of treatment is the correct diagnosis of the disease. Doctors recognize the disease on the basis of observing one or two large and two small symptoms. They include: Pringle’s nodules on the skin and changes in other organs, i.e. the brain, kidneys, heart, lungs and liver. In order to make a proper diagnosis it is necessary comprehensive diagnostics.
Full recovery of the cause of tuberous sclerosis is impossible, therefore symptomatic treatment is applied. So it will depend on the symptoms you are experiencing. If these are neurological changes that affect about 85 percent patients and include e.g. epilepsy, anti-epileptic drugs are used. The most commonly used drug is vigabatrin. Treatment of skin lesions, in turn, will require laser therapy or dermabrasion. Tumors in other organs, if they appear, either decrease in size (in the heart) or are asymptomatic (in the kidneys). Some can be surgically removed.
Tuberous sclerosis – prognosis
Unfortunately but tuberous sclerosis it is incurable. Patients usually lead a normal life and the disease has no effect on life expectancy.
Tuberous sclerosis – prevention
If a person suffers from this disease, he must monitor his body and report all disturbing symptoms to the doctor. When it comes to prophylaxis, there are no recommendations as to its use, as the lifestyle does not affect its education.