What Are the Signs and Symptoms of Tuberous Sclerosis?

Medically Reviewed on 9/1/2021
signs and symptoms of tuberous sclerosis
Signs and symptoms of tuberous sclerosis vary depending on where the tumors are located and the level of compression on internal organs

Signs and symptoms of tuberous sclerosis vary depending on where the tumors are located and the level of compression on internal organs. Symptoms range from mild to severe and may include:

  • Skin abnormalities: Patches of light-colored and thickened skin (café-au-lait spots) are commonly observed. Sometimes, acne-like red bumps can also be seen over the skin.
  • Eye abnormalities: Formation of white patches over the retina, which may or may not affect vision.
  • Lung involvement: Tumor growth inside the lungs reduces space for air, thus causing shortness of breath and coughing, especially during physical activity.
  • Heart involvement: Tumor growth inside the heart can cause an obstruction and lead to improper functioning of the heart.
  • Kidney involvement: Tumor growth can cause problems in the kidneys’ ability to filter blood and urine. Extensive compression by the tumor can also cause kidney failure.
  • Brain involvement: Compression of the brain tissue can lead to abnormal brain function, causing:
    • Behavioral changes
    • Personality changes
    • Seizures
    • Cognitive disorders

What is tuberous sclerosis?

Tuberous sclerosis is a rare genetic disorder in which there is an abnormal division of cells of various organs. This leads to the formation of noncancerous (benign) tumors in various parts of the body.

Tuberous sclerosis can affect any organ in the body, such as the:

  • Skin
  • Heart
  • Lungs
  • Kidneys
  • Eyes

Usually, initial signs and symptoms of the disease are noted soon after birth or at a very young age due to compressions caused by the tumors on various organs.

What causes tuberous sclerosis?

As a genetic disorder, tuberous sclerosis can be inherited two ways:

  1. In 50% of the patients, it is sporadic without any presence of genetic history. This results due to spontaneous mutations (genetic mosaicism) of the TSC 1 and TSC 2 genes.
  2. In the other 50% of patients, there is a positive family history with the autosomal dominant type of inheritance, where affected parents have a 50% chance of transferring the diseased gene to their children.

TSC 1 is located on chromosome 9 and produces a protein called hamartin. Similarly, TSC 2 is located on chromosome 16 and produces a protein called tuberin. Hamartin and tuberin are responsible for keeping the body’s cell division in check.

If there is a genetic mutation, these proteins are lost, leading to abnormal proliferation of cells and increased division, leading to various noncancerous tumor formations.

How is tuberous sclerosis diagnosed?

Diagnosis of tuberous sclerosis is made through tests such as:

Can tuberous sclerosis be prevented?

There is no way to prevent the disorder if the genetic mutation has already been inherited, and there is no permanent treatment option available. Symptoms can only be managed to improve quality of life.

People with mild symptoms may experience very little effect in their daily life. However, people with severe organ involvement may need regular medical assistance for survival.

How is tuberous sclerosis treated?

Treatment for symptoms involves:

  • Antiepileptic drugs for seizures
  • Surgery for heart, lung, or kidney tumors
  • Treatment for acne and patchy skin
  • Treatment for the mental development of the affected child

What is the prognosis of tuberous sclerosis?

Prognosis depends on the severity of symptoms and extent of organ involvement.

If the tumors are limited to superficial organs (such as the skin), prognosis is good. However, if deeper tissues (such as the heart and brain) are affected, prognosis may be bad.

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Medically Reviewed on 9/1/2021
Franz DN. Tuberous Sclerosis. Medscape. https://emedicine.medscape.com/article/1177711-overview