Tuberous Sclerosis

Tuberous sclerosis — also known as tuberous sclerosis complex (TSC) — is a rare genetic disorder that causes benign (noncancerous) tumors to grow in different parts of your body, including your brain, lungs, kidneys, heart, skin, and eyes. Tumors in your kidneys can affect your kidney function and eventually lead to kidney failure.

UPMC experts provide personalized, multidisciplinary care for people with tuberous sclerosis. Their goal is to manage symptoms, optimize quality of life, and reduce the risk of life-threatening complications.

On this page

• What Is Tuberous Sclerosis?
• What Are the Symptoms of Tuberous Sclerosis?
• How Do You Diagnose Tuberous Sclerosis?
• How Do You Treat Tuberous Sclerosis?

What Is Tuberous Sclerosis?

Tuberous sclerosis — or tuberous sclerosis complex (TSC) — is a rare genetic disorder that causes benign (noncancerous) tumors to grow in different parts of your body, including your brain, lungs, kidneys, heart, skin, and eyes. Tumors in your kidneys can affect your kidney function and eventually lead to kidney failure.

What causes tuberous sclerosis?

Tuberous sclerosis is caused by mutations (changes) in the TSC1 or TSC2 genes, which regulate cell growth. When these genes do not function normally, cells grow and divide too quickly, forming tumors in different parts of the body.

Sometimes, gene mutations that cause tuberous sclerosis are inherited from a parent. However, most cases develop spontaneously, without a parent passing a mutated gene to their child.

What are tuberous sclerosis risk factors and complications?

Tuberous sclerosis risk factors

You are at risk of developing tuberous sclerosis if you have a biological parent with the disorder. If a parent has tuberous sclerosis, each child has a 50% chance of developing this disorder.

Complications of tuberous sclerosis

Tuberous sclerosis can cause serious — and sometimes life-threatening — complications, as well as physical and intellectual disabilities.

Complications may include:

• Autism spectrum disorder.
• Benign tumors in the brain, heart, lungs, liver, pancreas, skin, eyes, and other organs.
• Developmental delays.
• Kidney disease.
• Lung disorders.
• Seizures.
• Skin abnormalities.

How can I prevent tuberous sclerosis? 

Tuberous sclerosis is a genetic condition and can’t be prevented. It happens when parents pass a mutated gene to their child or when a gene mutation occurs spontaneously. Your doctor may recommend genetic counseling and testing if you have a parent or sibling with tuberous sclerosis.

How common is tuberous sclerosis?

Tuberous sclerosis is a rare condition that affects one in 6,000 to 10,000 people.

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What Are the Signs and Symptoms of Tuberous Sclerosis?

Some people with tuberous sclerosis only have mild symptoms. However, other people can have severe or life-threatening symptoms, as well as physical or intellectual disabilities.

What are the first symptoms of tuberous sclerosis?

Seizures or delayed development in childhood may be the first signs of tuberous sclerosis.

Other symptoms may include:

• Abnormal heart rhythm.
• Brain tumors or calcium deposits on the brain.
• Dental problems, such as pitted teeth.
• Developmental delays.
• Growths on the eyes, fingernails, toenails, gums, or tongue.
• Heart tumors.
• Intellectual disabilities.
• Kidney tumors.
• Seizures.
• Skin abnormalities, such as red or raised patches and light spots with decreased pigment.

When should I see a doctor about my tuberous sclerosis symptoms?

Many cases of tuberous sclerosis are diagnosed in childhood. However, if you have symptoms of tuberous sclerosis — or if you have a parent who has tuberous sclerosis — you should schedule an appointment with your doctor right away.

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How Do You Diagnose Tuberous Sclerosis?

Tuberous sclerosis can affect many body parts, and the symptoms differ for everyone. Your doctor will order tests to diagnose tuberous sclerosis based on your symptoms.

What to expect during your visit

During your visit, your doctor will:

• Order tests.
• Perform a physical exam.
• Review your health history.
• Review your medication history.

Tests to diagnose tuberous sclerosis

Several tests can be used to diagnose tuberous sclerosis, including:

• Cardiac testing — Common cardiac tests include an electrocardiogram (ECG) to measure the electrical activity of your heart and an echocardiogram (echo) to create ultrasound images of your heart.
• CT scan — A test that creates images of the organs, bones, and tissues in your body and can identify tumors in various organs.
• Eye exam — Checks for tumors or pale spots in your eyes.
• Genetic testing — A blood test that can identify the TSC1 or TSC2 gene mutation, which can help make a diagnosis.
• MRI — Uses a combination of large magnets, radio frequencies, and a computer to produce detailed images of organs and structures within your body.
• Skin exam — Checks for skin abnormalities associated with tuberous sclerosis.
• Ultrasound — Uses sound waves to create images of your organs to check for tumors or other problems.

Tuberous sclerosis prognosis

Tuberous sclerosis is a lifelong condition that requires ongoing imaging scans and care. Your prognosis with tuberous sclerosis will depend on the severity of your symptoms.

What is the life expectancy of someone with tuberous sclerosis?

People with mild tuberous sclerosis may be able to live normal lives with an average life expectancy. However, people with severe symptoms may have life-threatening complications that reduce life expectancy or physical and intellectual disabilities that affect their ability to perform everyday activities.

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How Do You Treat Tuberous Sclerosis?

Tuberous sclerosis can affect many body parts, and each person’s symptoms differ. Your care team will take a personalized, multidisciplinary approach to your care, depending on your individual needs.

Treatment goals include:

• Managing symptoms.
• Optimizing quality of life.
• Reducing the risk of life-threatening complications.

Treatment may include:

Routine imaging scans

Your doctor may recommend routine imaging scans to find new tumors and monitor existing tumors. Finding tumors early and treating them before they become too large may reduce the risk of life-threatening complications.

Medications

Medications won’t cure tuberous sclerosis, but they can help you manage symptoms. Your doctor may prescribe antiseizure medications or other drugs to help manage mental health, cognitive, skin, lung, or cardiac symptoms.

Kidney care

Kidney problems are common in people with tuberous sclerosis. To reduce your risk of kidney failure and other complications, your doctor may recommend routine kidney ultrasounds and frequent blood and urine testing to check how well your kidneys are working.

Therapy

Your doctor may recommend physical, behavioral, occupational, or speech therapy to manage tuberous sclerosis symptoms.

Surgery

If you have many tumors or if they become too large, your doctor may recommend surgery or other procedures to remove or treat them. This can reduce symptoms and lower your risk of complications.

Why choose UPMC for tuberous sclerosis care?

When you choose UPMC for tuberous sclerosis care, you will receive:

• Access to world-class nephrology expertise — Our world-renowned experts treat the full spectrum of kidney diseases using the latest diagnostic and treatment techniques.
• A full range of treatment options — We'll work with you to develop a treatment plan that helps you manage your symptoms and improves your quality of life.
• Multidisciplinary care — We partner with other medical specialists to ensure you receive complete care based on your symptoms and needs.

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By UPMC Editorial Staff. Last reviewed on 2025-04-24 by Faizan Syed, MD.