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Tuberous Sclerosis

  • Posted on- Feb 06, 2016
  • 7697 Views

Tuberous sclerosis is also known as tuberous sclerosis complex or TSC. It is a complicated multi-system genetic disease which is very rarely observed but can cause very serious problems. As it is a genetic disease, it has the ability to cause benign tumours to grow in the brain and other vital organs like heart, lungs, kidneys, eyes, and on the skin. There are levels of severity of this disorder and thus, the symptoms and treatments vary depending on the case. Since it is a genetic disorder, it can be inherited through the previous generations.

Causes of Tuberous Sclerosis

  • As mentioned earlier, tuberous sclerosis is an inherited disease through the genetic mutations which might have been created in the generations earlier.
  • This is caused due to the gene mutations in two genes, the TSC1 and TSC2 which are responsible for the further conditions.
  • When the mutation occurs, only a single parent is required to pass it to the child, and in many cases there are new mutations which could also be created. Due to this change and growth of the mutation, there is no solid family tracing of this disease even though it is hereditary.
  • In this disease, both the skin and the central nervous system are involved and the most affected are the brain and the spinal cord.
  • Since the tumours are benign in nature, there are no known risk factors of the disease. It is only that, if a parent has this condition, the child can be a carrier. If only one parent has it, there is a 50% chance of the child inheriting it.


Symptoms

  • The symptoms can be varied according to the organ on which the tumours are created, thus the treatment also depends on that.
  • For the skin, the symptoms are black spots, red patches on face which contain blood vessels, shagreen spots on raised patches, and white areas that look like ash leaves.
  • For benign brain tumours, symptoms could be seizures, developmental delays, and mental retardation.
  • Heart tumours or rhabdomyoma, is also a diagnosed symptom.
  • Kidney tumours can also be diagnosed easily due to urination problems.
  • Pitted dental enamel is a very common symptom seen during this disease. Rubbery and non-cancerous tumours on or around the tongue are also observed.
  • Rough and small growths around and under the fingernails and toenails are also observed.
  • The symptoms for this disease differ from person to person, also depending on age and sex, so they cannot be generalized for everyone. Also, the above mentioned symptoms can be of various other diseases, hence it is advised that you get yourself checked if you start showing any of the aforementioned symptoms.


Treatment

As mentioned earlier, the treatment for this condition totally depends on the symptoms that are observed in a patient. Apart from that, there is no cure or treatment for this disease. When these symptoms become serious due to some other complications in the body, the diagnosis of these problems helps in deciding the treatments for them. All you can do to treat tuberous sclerosis is trying and minimize the symptoms observed. The benign tumours can be surgically removed if they are creating too many problems in the body, or in the functioning of the organs.

This malfunction of genes can happen to anyone, as they are genetic mutations which are uncontrolled. But the disease is not harmful once it is diagnosed hence, consulting a doctor on a regular basis is important.

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