Tuberous Sclerosis

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Tuberous Sclerosis
By M.T.
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What is Tuberous Sclerosis?

• It is a rare, multi-system genetic disease that
  causes tumors to grow in the brain and other
  vital organs such as the kidneys, heart, eyes,
  lungs, and skin.
• Characterized by mental retardation and tubers-
  root like growth in the brain, which calcify with
  age and become hard.
• Also known as TSC
• It commonly affects the central nervous system

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Causes and Inheritance

• TSC is caused by mutations on two genes- TSC1 and
  TSC2 found on chromosomes 9 and 16
• Only one of the genes needs to be present for TSC
  to be inherited
• It is inherited as an autosomal dominant trait-
  trait is carried by a dominant gene
• A high percentage of cases are do to mutations.

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Con.

• Can be acquired through a process called gonadal
  mosaicism- when a portion of one of the parents
  reproductive cells can contain the genetic
  mutation without the other cells of the body
  being involved.

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Signs and Symptoms

• Family history of Tuberous Sclerosis
• Tubers in brain or other vital organs
• Ash leaf spots- white lesions that have the shape
  of an ash leaf
• Shagreen spots on the skin (most commonly on the
  back)
• Red bumps on the skin resembling irritated acne,
  that enlarge with age called facial angiofibromas

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Signs and Symptoms Con..

• Rough growths under or around fingernails and
  toenails
• Pitted dental enamel
• Mental retardation- Autism is a common occurrence
  with children that have TSC
• Seizures

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How is TSC diagnosed?

• Diagnosis is based on a careful clinical exam in
  combination with computed tomography (CT) or an
  MRI of the brain
• An ultrasound of the heart, liver, and kidneys,
  which may show tumors in those organs
• Doctors carefully examine the skin, fingernails
  and toenails, eyes, and the teeth and the gums
  for any common TSC related features
• In infants TSC may be suspected if the child has
  cardiac seizures or spasms at birth

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Treatments For TSC

• Treatment is available for individual symptoms
• No cure for TSC
• Antiepileptic drugs may be used to control
  seizures, and medications may be prescribed for
  behavior problems.
• Special schooling or occupational therapy
• Surgery can treat skin lesions
• Patients must be regularly monitored by a doctor

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The prognosis

• Depends on the severity of the symptoms
• Those with mild symptoms do well and are able to
  live long productive lives
• While individuals with the more severe form may
  have serious disabilities and live for a short
  time.

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Who is affected?

• 25,000 to 40,000 in the U.S.
• About 1 to 2 million individuals worldwide
• It is prevalent 1 in 6,000 newborns
• Occurs in all races ethnic groups, and both
  genders

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This is an example of facial angiofibromas on a
Tuberous Sclerosis patient