Tuberous Sclerosis: Overview of symptoms, causes and treatment

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Tuberous Sclerosis
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Tuberous Sclerosis

• 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.

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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.

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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.

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Symptoms
Continue

• 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.

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Treatments

• 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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