Learn About Rare Disease >    Tuberous Sclerosis Complex (TSC)

Tuberous Sclerosis Complex (TSC)

Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of benign tumors in different organs of the body. Many patients have tumors in the brain that can lead to a variety of neurological symptoms including seizures and developmental delays.

Key characteristics and symptoms of Tuberous Sclerosis Complex (TSC)


Skin abnormalities: Most patients with TSC have skin bumps or patches located on various parts of the body, such as the face, nails, or back.

Tumor-like growths in the brain: Many TSC patients have tumor-like growths in the brain that can lead to a variety of neurological symptoms such as seizures, nausea, headaches, vomiting, learning difficulties, or behavioral changes.


  • Benign heart tumors
  • Benign eye tumors
  • Seizures
  • Cognitive impairment
  • Renal cysts that can lead to abdominal pain
  • Nausea, vomiting
  • Fever
  • Bloody urine
  • Lung abnormalities that can lead to shortness of breath
  • Fatigue
  • Chest pain
  • Behavior problems

How is Tuberous Sclerosis Complex diagnosed?

A diagnosis of TSC can be made based on an assessment of symptoms or through genetic testing that identifies a mutation of the TSC1 or TSC2 gene.

How is Tuberous Sclerosis Complex treated?

Currently there is no cure for TSC. Patients are treated for their symptoms, not for the underlying cause of the disease. Anti-epileptic medications can help address seizures. Surgical procedures, creams, and other medicines can address tumors. There are currently companies investigating treatments for TSC and researchers analyzing patient data to better understand the condition so a cure may be found.

AmbitCare can help you understand how rare disease might be part of your story.

The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.

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Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at info@ambitinc.com today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.