Tuberous Sclerosis

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Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a genetic, life-long condition that causes lesions and benign tumors in your organs (mainly the brain, eyes, heart, kidney, skin and lungs). These lesions and tumors grow because your body's cells reproduce when they shouldn’t. The tumors may have been present when you were born or may develop at any time throughout your life. Although the tumors aren't cancer, they can still cause problems throughout your body. Tuberous sclerosis is sometimes also found along with other conditions, like epilepsy and autism, and it also may be a cause of those conditions. These conditions may require specialized care.

The Tuberous Sclerosis Alliance has recognized our clinic for our multidisciplinary and collaborative approach. Our team includes experts in child and adult care, including:

  • Neurologists
  • Pediatricians
  • Nephrologists
  • Dermatologists
  • Cardiologists
  • Radiologists
  • Pulmonologists

What Causes Tuberous Sclerosis?

Two genes have been identified as the cause of tuberous sclerosis: TSC1 and TSC2. It only takes a mutation in one of these genes for tuberous sclerosis to develop. You may have inherited the mutated gene from one of your parents. However, in most cases, tuberous sclerosis doesn't appear to be inherited.

Symptoms of TSC

Symptoms can start appearing at any time, including at birth. The symptoms you experience entirely depend on where the lesions or tumors appear, how many you have and their size. Tuberous sclerosis symptoms include:

Brain:

  • Seizures or epilepsy
  • Headache
  • Nausea
  • Vomiting
  • Difficulty with movement (increased clumsiness, difficulty walking, etc.)
  • Changes in behavior
  • Developmental delays 
  • Visual problems (also seen when there are tumors in the eyes)
  • Autism spectrum disorder

Heart: 

  • Palpitations
  • Chest pain
  • Abnormal heart rhythm
  • Congestive heart failure
  • Blueish skin color (from reduced blood flow)

Heart tumors from TSC are more common in children. The majority of patients with TSC-related heart tumors do not have any symptoms, although some patients may experience irregular heart rhythms.

Kidneys:

  • Increased blood pressure
  • Problems with kidney functioning or kidney failure

Kidney tumors occur are most common in TSC, although most patients do not have any noticeable symptoms. 

Eyes:

  • Visual problems
  • Changes to the color of parts of the retina

Skin:

  • Patchy loss of skin color, which may be large and shaped like an oval (“ash leaf spots") or may be very small (“confetti spots”)
  • Small bumps or larger bumpy patches, particularly on the face and head (angiofibromas, fibrous plaques)
  • Skin tags
  • Large areas of rough skin, particularly on the back, sides and abdomen (shagreen patch)
  • Grooves, raised areas and other nail abnormalities (ungual fibromas)
  • Bumps on your gums (gingival fibromas) or pits in your teeth

Lungs:

  • Shortness of breath
  • Painful breathing

Women over the age of 20 are thought to be at the highest risk for lung problems.

You’ll experience different symptoms at various stages of your life.

Treating TSC

Although there is no cure, most people with TSC have normal lifespans. Tuberous sclerosis treatment focuses on managing the tumors and the symptoms they cause. The treatment plans for your TSC will change over time depending on where your tumors appear and how severe the symptoms are. Treatment may include:

  • Periodic imaging to evaluate changes in tumor size
  • Medications 
  • Surgery
  • Skin treatments such as laser surgery or topical medication
  • Speech, occupational or physical therapy for children with developmental delays

If the disease affects your brain, kidneys and other organs, you could develop more serious health problems and be at risk for death. Early diagnosis and close partnership with your healthcare provider will help you to identify and effectively manage your tuberous sclerosis.