Tuberous Sclerosis

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a genetic condition that causes small, noncancerous tumors to grow in different parts of your body. It can affect your brain, kidneys, heart, lungs and skin.

This condition looks different in every person. Some people have seizures. Some have learning or developmental delays. Others may notice changes in their skin. Some may have a mixture of the above.

Living with a rare condition can feel overwhelming at times, but support and treatment are available. There’s no cure yet, but your provider can help you manage symptoms and protect your health over time.

Types of tuberous sclerosis complex

Researchers found different patterns of symptoms with TSC. They call these patterns clusters. The different clusters include:

• Angiomyolipoma-predominant TSC (Cluster 1): You may have skin changes on your face and a higher chance of kidney or brain tumors.
• TSC with infantile spasms (Cluster 2): This type includes children who have a kind of seizure called infantile spasms.
• Neuropsychiatric TSC (Cluster 3): You may have autism, learning difficulties or other developmental concerns. You might also have seizures and certain brain changes seen on imaging tests.
• Milder phenotype of TSC (Cluster 4): You might have more common TSC symptoms but fewer complications. These symptoms may have less of an impact on your daily life.

Tuberous sclerosis symptoms

Tuberous sclerosis complex can affect many parts of your body. Symptoms usually affect your:

• Brain
• Skin
• Other organs

Brain-related symptoms

These symptoms happen when growths form in your brain. You may have:

• Seizures (like infantile spasms, focal seizures and tonic-clonic seizures)
• Developmental delays and intellectual disabilities
• Neurodevelopmental disorders (like autism and ADHD)
• Headaches

Not everyone with TSC has all these symptoms.

TSC can cause seizures when small growths in your brain change the way electrical signals work. These growths, called tubers, form before birth. They can send out mixed or extra signals. The extra signals can cause seizures.

Skin-related symptoms

Skin changes are often the first sign of TSC. You may have:

• Light patches on your skin (ash leaf spots)
• Small light spots that look like confetti
• Bumps on your face
• Growths around your fingernails or toenails
• Thick patches of skin, often on your lower back

Changes in other organs

TSC can also cause growths or cysts in other parts of your body, like your:

• Kidneys: Pain or blood in your pee
• Lungs: Lymphangioleiomyomatosis (LAM), which causes trouble breathing
• Heart: Problems with blood flow in infants
• Eyes: Vision changes
• Mouth: Irritation, bleeding or tiny pits in your teeth

You might not notice organ symptoms at first, so regular imaging, tests and checkups are important.

What causes tuberous sclerosis?

TSC happens because of a genetic variation in one of two genes: TSC1 or TSC2. These genes normally make proteins called hamartin and tuberin. The proteins help control how fast cells grow.

When there’s a change in the TSC1 or TSC2 gene, the proteins don’t function as expected. A growth pathway in your body, called the mTOR pathway, becomes too active. This makes cells grow and divide more than they should.

Over time, this extra cell growth can lead to noncancerous tumors and other tissue changes in different parts of your body.

Tuberous sclerosis complex can run in families. TSC is autosomal dominant. This means a biological parent only needs to pass on one changed gene for a child to develop the condition. But it can also happen if you don’t have any family history.

Since it has a genetic cause, there’s no way to prevent tuberous sclerosis.

Complications

TSC can lead to problems in different parts of your body. Some of these can be life-threatening. Possible complications include:

• Blocked blood flow to your heart
• Epilepsy and seizures that are hard to manage
• Kidney damage or kidney failure
• Lung collapse or lung failure
• Too much fluid in your brain
• Vision loss
• Cancerous tumor in your kidneys (rare)

This condition may affect your mental health, especially if the skin changes make you feel uncomfortable about your body. If you’re having a hard time with your emotional well-being or the stress of ongoing medical care, talking with a therapist may help.

How doctors diagnose tuberous sclerosis

Doctors diagnose TSC by looking for signs of the condition and reviewing the symptoms you experience. They’ll do a full skin exam. They may use a special light to look for light patches. They may also do an eye exam.

Imaging tests can help find growths linked to TSC. These may include:

• Brain MRI or CT scan
• Chest CT scan
• Heart ultrasound
• Kidney ultrasound or MRI

Genetic testing can also help diagnose TSC. It looks for changes in the TSC1 or TSC2 gene. Not everyone needs genetic testing, but it can confirm the diagnosis and help guide family planning.

Tuberous sclerosis treatment

TSC treatment focuses on managing symptoms and watching for new changes over time. You may need a mix of treatments, like:

• Learning and behavior support: You may benefit from school supports, therapy and programs that help with learning, behavior and daily skills. These services can make everyday life easier.
• Antiseizure medications: Different medications treat seizures. Sometimes, specific medications may help, like the use of vigabatrin in the treatment of infantile spasms.
• mTOR inhibitors: These medicines calm the overactive growth pathways in TSC. Everolimus or sirolimus may shrink or slow brain tumors and kidney tumors, help with lung disease and improve some skin growths.
• Topical treatments: These are creams you apply to your skin. Rapamycin may smooth facial skin growths and help you avoid the side effects of pills.
• Surgery: A surgeon may remove brain tumors, kidney tumors or treat seizures that don’t respond well to medications.

What can I expect if I have tuberous sclerosis?

Tuberous sclerosis affects people in different ways, and the symptoms can change over time. Some people have mild symptoms that don’t disrupt daily life. Others may have more challenges and need regular medical care. Your experience will depend on how strongly it affects your body.

If you have mild symptoms, you may only need routine checkups and a few treatments — like medicine to manage seizures, behavior support or skin growth creams. Severe symptoms need more, like help with learning or doing your daily tasks. Some cases may require full-time medical care, which means you may not be able to live independently.

TSC can also affect your lungs. If you have LAM, your provider will talk with you about things that may trigger symptoms (make them worse), like air travel or certain hormone medicines.

Your healthcare provider can help you understand what you can expect in your situation.

Tuberous sclerosis life expectancy

Life expectancy with TSC depends on how severe the symptoms are. Many people live normal lifespans. Others may have serious complications, especially from seizures, kidney or lung problems. Serious complications may reduce your life expectancy.

Staying connected with your care team and keeping regular visits may catch issues early and protect your health.