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Tuberous Sclerosis Complex (TSC)

Description:

Tuberous sclerosis complex (TSC), or tuberous sclerosis (TS), is a genetic disorder that causes non-cancerous tumors to form in many different organs including the skin, kidney, brain, heart, eyes, lungs, teeth and oral cavity.

Symptoms of TSC

The symptoms of TSC can range from mild to severe. Individuals with TSC can experience a range of symptoms, depending on where the tumors develop.

  • Heart: Tumors can block blood flow or cause abnormal heartbeat.
  • Brain: Seizures, intellectual disability, headaches and blurred vision. About a half to two-thirds of individuals with TSC have developmental delays. One-third of those with TSC can have autism spectrum disorders (ASD).
  • Spine: Tumors can block the flow of cerebral spinal fluid.
  • Lungs: Breathlessness
  • Kidneys: Cysts on kidneys can cause pain, weakness or kidney failure.
  • Eyes: Tumors in the eyes can appear as white patches on the retina in individuals with TSC. If these tumors grow too large, they can cause vision loss or blindness.
  • Skin: A variety of skin abnormalities may be seen, such as white or lighter patches of skin, reddish spots or bumps on the face, raised or discolored areas on the forehead, leathery patches on the lower back or nape of the neck, and fleshy tumors around and under fingernails and toenails. These usually do not cause any problems but are helpful in diagnosing TSC.

*Note: None of the above clinical features are specific to TSC in isolation. An individual needs to have a combination of symptoms to make a TSC diagnosis more likely.

Source: MedlinePlus and the National Institute of Neurological Disorders and Stroke (NINDS)

Diagnosing TSC

Diagnosis of TSC involves careful examination of an individual’s heart, lungs, kidneys, brain, eyes and skin using magnetic resonance imaging (MRI), computed tomography (CT) or a Wood’s lamp or ultraviolet light for locating skin abnormalities. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for TSC. Individuals with TSC receive treatment for their symptoms, but require careful monitoring throughout their lives for life-threatening conditions related to brain, heart, lung and kidney tumors. However, with proper medical attention, most individuals with TSC can have a normal life expectancy.

Source: National Institute of Neurological Disorders and Stroke (NINDS)

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