Tuberous Sclerosis

What is tuberous sclerosis?

Tuberous sclerosis complex (TSC) is a rare genetic disease that causes noncancerous tumors to grow throughout your body. This condition, sometimes known simply as tuberous sclerosis, can affect people in many ways. People with less severe cases may see very few effects and have a normal lifespan. Severe cases can lead to serious complications.

TSC is a disease that may progress slowly. Some symptoms may begin early in life, but it may take years for others to appear. People with this condition will need to see a healthcare provider regularly throughout their life to monitor this condition.

Who does tuberous sclerosis affect?

TSC is a condition you have when you’re born. Healthcare providers diagnose half of all cases by the time a child reaches 7 months old. However, milder cases may go unnoticed for years. People diagnosed with TSC as children can also have other symptoms diagnosed after they become adults. This condition is equally likely to happen in everyone, with no differences due to sex, race or ethnicity.

How common is tuberous sclerosis?

TSC is rare. There are about 50,000 people who have it in the U.S., and about 1 million have it worldwide.

How does tuberous sclerosis affect my body?

The main effect of TSC is that it causes clusters of cells to grow and become tumors. The most common place for this to happen is your brain. TSC can also cause changes in your skin, especially when you’re very young. Those skin changes are often the first symptom or sign that a person has this condition.

TSC can affect your heart and kidneys, too. Different kinds of growths are common in these organs. Growths in other locations are less common.

What are the symptoms of tuberous sclerosis?

The symptoms of tuberous sclerosis can vary greatly depending on the organs or body parts affected. Symptoms tend to fall under the following categories:

• Brain-related symptoms.
• Skin-related symptoms.
• Changes elsewhere inside of your body.

Brain-related symptoms

Brain-related symptoms happen when TSC causes tumors or cortical tubers (hamartomas) to grow in your brain. These tumors aren't cancerous but can still damage or disrupt your brain function. Examples of these kinds of tubers and tumors include:

• Subependymal giant cell astrocytoma (SEGA): These are nodule-like growths on the outer surface of your brain. They usually form on the surface of your brain in small, fluid-filled, pocket-like spaces inside your brain called ventricles. These can sometimes block fluid flow, causing fluid buildup in and around your brain (hydrocephalus).
• Cortical tubers (hamartomas): These are clusters of noncancerous cells that form inside your brain. These clusters are near where they should be, but slightly out of place or disorganized. That’s because there were too many cells and not enough space for them.

In many cases, TSC causes additional conditions, which can involve other symptoms.

• Seizures.
• Developmental delays and mental disabilities.
• Brain development-related disorders like autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD).

While seizures and mental disabilities are common with TSC, not everyone with this condition will have them. It’s also possible to have TSC with seizures but without mental disabilities.

Skin-related symptoms

Skin-related symptoms are often the earliest indicator that you have TSC. Experts estimate that 90% of people with TSC have one or more of the following:

• Ash leaf spots: These are areas of skin with less melanin (the pigment that gives your skin its color). These spots are sometimes harder to see on people with lighter skin. These spots glow under certain types of ultraviolet (UV) light.
• Confetti marks: These look like freckles, but they’re lighter than the skin around them (ordinary freckles are darker than the surrounding skin). These are also more likely to develop very early in childhood.
• Facial fibromas: These are noncancerous tumors that develop on the skin of your face. When they’re large enough, or several develop close enough to each other, they can form a larger structure called a “plaque.” They’re often darker colored than the surrounding skin.
• Fingernail and toenail fibromas: These are similar to facial fibromas, but they grow around the edges or underneath your fingernails and toenails. These usually appear during puberty and grow throughout your life.
• Shagreen patches: These are areas of fibrous tissue buildup just underneath the epidermis (the outermost layer of your skin). These usually happen on your lower back and have a texture like an orange or grapefruit peel.

Changes elsewhere inside your body

The growths that happen with TSC, either tumors or cysts, can happen in many other places throughout your body. Some other changes can happen, too. The possible changes include:

• Changes in your mouth: These include mouth fibromas or pitting from lack of enamel on your teeth. Enamel pitting affects almost everyone with TSC. Growths on your gums can cause irritation and bleeding, and enamel pitting can sometimes lead to cavities.
• Growths or cysts in your kidneys: Cysts and growths in your kidneys can disrupt kidney function. Symptoms include pain in your back or sides, blood in your urine or kidney stones. Kidney failure and renal cell carcinoma, a type of kidney cancer, are also possible.
• Growths on your retinas or optic nerves: These growths can cause vision problems, but this isn’t common.
• Growths in your heart (cardiac rhabdomyomas): These are most serious for infants, as the risks decrease with age. Large growths can disrupt blood flow through your heart, though this is uncommon.
• Growths in your lungs: When these are severe, they can cause breathing problems.

What causes tuberous sclerosis?

TSC is a genetic disease, meaning it happens because of DNA mutations. Most cells in your body reproduce and create their replacements. Your body controls this process using tumor-suppressing proteins.

Those proteins control how fast cells reproduce and cell size. Without the right balance between these proteins, you’d have a surplus of oversized cells. And with nowhere to go, those cells will push beyond where they should be and form tumors.

Does tuberous sclerosis run in families?

The mutations that cause TSC can happen in two ways:

• Sporadic: These are mutations that happen accidentally just after conception (when a sperm fertilizes an egg and becomes an embryo). This is a new error, similar to a misprint or a typo. Sporadic cases are more common than inherited cases.
• Inherited: About one-third of TSC cases happen when a child inherits it from a parent.

How is tuberous sclerosis diagnosed?

Experts divide the signs and symptoms into two categories: major and minor features. A confirmed diagnosis of TSC requires two or more major features. Because symptoms may appear over time, a healthcare provider can classify your diagnosis as “possible TSC” if you have only one major feature or at least two minor features.

Major features

• At least three ash leaf spots, each at least 5 millimeters (mm) at their widest point.
• At least two facial fibromas or a fibroma plaque on your face or head.
• At least one fingernail or toenail fibroma.
• At least one Shagreen patch.
• More than one growth on your retinas.
• Certain types of tissue growth in or on your brain.
• A certain type of growth in your heart.
• Certain types of benign tumors affecting your lungs, kidneys or lymph nodes.

Minor features

• Confetti skin lesion.
• Four or more pits in the enamel on your teeth.
• Two or more growths in your mouth.
• Growths on your retinas.
• More than one cyst in your kidneys.
• Benign growths in other organs or areas.

What tests will be done to diagnose tuberous sclerosis?

Because TSC can cause so many different symptoms and effects, there are many possible tests. The tests often vary depending on your symptoms. Because so many factors can affect the tests you’ll undergo, your healthcare provider is the best person to tell you what tests they recommend and why. Some common tests for tuberous sclerosis are listed below. Genetic testing ultimately confirms the diagnosis of TSC and helps identify the specific mutation in the TSC genes.

Tests for brain-related symptoms

Diagnostic imaging and other forms of testing are most likely for brain-related symptoms. This is especially true if you have seizures (or any evidence that suggests you could have seizures). Imaging scans and tests that are possible include:

• Computed tomography (CT) scan.
• Magnetic resonance imaging (MRI scan).
• Electroencephalogram (EEG).

If a provider suspects an intellectual disability, they might recommend undergoing certain types of cognitive tests. These tests help identify problems with how your brain and thinking processes work. They usually include questions or tasks related to memory, judgment and decision-making.

Tests for skin-related symptoms

A physical examination is a key part of identifying TSC. Many of the signs and symptoms of this condition are visible at an early age. A healthcare provider can use certain tests to help them confirm or rule out TSC. The most likely tests include:

• Wood’s lamp examination (a noninvasive test that uses ultraviolet light to make ash leaf spots glow).
• Skin biopsy.

Tests for changes elsewhere inside your body

Genetic testing is a key tool that can help detect TSC. Between 75% and 95% of cases will have a TSC1 or TSC2 mutation. You can still have it without a detectable mutation, but this is less common.

Many changes with TSC start when a person is still a fetus developing in the uterus. Healthcare providers can sometimes detect those changes during routine prenatal care, especially ultrasound tests, or with CT or MRI scans soon after birth.

How is tuberous sclerosis treated?

Tuberous sclerosis isn’t curable, but it’s often treatable. The treatment approaches usually depend on the types of symptoms. The most common forms of treatment are:

• Medications: Medications can help with many of the symptoms of TSC. Some medications can treat brain-related symptoms, such as seizures. Others can treat symptoms that happen because of tumors and growths throughout your body.
• Surgery: In some cases, surgery is necessary to remove growths from inside your body.
• Dermatology treatments: These remove (either partially or fully) the visible parts of growths you have on or just underneath your skin.

Medications

Depending on your symptoms, your healthcare provider may recommend other medications, too. However, these are often very specific to your symptoms, health history, personal needs and preferences, and more.

Different types of medications can help treat symptoms of TSC. There are medications that can slow or stop tumor growth, or even shrink tumors. Other commonly used medications prevent seizures, which are among the most common and most dangerous symptoms of TSC.

Surgery

The growths that happen with TSC can sometimes cause problems, depending on where they happen. Sometimes, surgery is necessary to remove growths causing issues with various organs or body systems. Your healthcare provider can tell you more about possible surgeries and other treatment options you have.

Dermatology treatments

Many symptoms of TSC are very visible — and you might feel anxious, self-conscious, embarrassed or ashamed. A dermatologist can help reduce or remove and the skin changes that can come with TSC. While these treatments are usually a temporary solution, they can make a big difference in your mental health.

Examples of dermatology treatments for TSC-related skin symptoms include:

• Cryoablation.
• Laser skin resurfacing.
• Dermabrasion or dermaplaning.
• Excision (a minor surgery similar to mole removal).
• Skin grafts.

Complications/side effects of the treatment

The possible side effects or complications of TSC treatments vary widely. This is especially true because there are so many possible symptoms and treatment options. Because of this, your healthcare provider is the best person to tell you the side effects or complications you might experience. They can also tell you more about how long it might take to feel better after treatment.

Can I reduce my risk of developing tuberous sclerosis or prevent it entirely?

There’s no way to prevent TSC. Genetic counseling can help you understand the likelihood of your child inheriting this condition and what — if anything — you can do to make that less likely. Experts often recommend this counseling if you have a first-degree relative (a parent or sibling) who has TSC.

What can I expect if I have tuberous sclerosis?

Most people with TSC will need regular imaging scans every one to two years, especially MRI scans. This usually starts early in childhood and lasts until age 21. Some people will need regular imaging scans throughout their life to detect new tumors or monitor existing ones.

TSC can have a wide range of effects depending on how severe it is.

• Mild cases: Those with mild symptoms or cases may need to take medication regularly or receive treatment, but the condition causes little or no disruption in their life. These individuals typically have the same expected lifespan as people without TSC.
• Moderate cases: Symptoms in moderate cases may cause some disruptions, but the effects are often manageable with treatment and regular medical care. These people usually have a normal or slightly shorter expected lifespan.
• Severe cases: These individuals may have intellectual disabilities, severe epilepsy or other concerns. Some may not be able to live independently or may need skilled medical care for most or all of their lives.

How long does tuberous sclerosis last?

Tuberous sclerosis is a permanent, lifelong condition.

How do I take care of myself?

If your provider prescribes medication, you should take it as prescribed. You shouldn’t stop taking medications without first talking to your provider. Stopping them suddenly could increase your risk of symptoms returning or getting worse.

Other ways to take care of yourself can vary from person to person. That’s because many factors contribute to what you should do. Your healthcare provider is the best person to offer guidance on what you can and should do to care for yourself and manage your condition.

When should I see my healthcare provider?

If you have TSC, you’ll likely need to see a healthcare provider regularly throughout your life. This allows your healthcare provider to monitor the condition and track the changes it causes. Both are key parts of avoiding serious complications from TSC.

When should I go to the ER?

Depending on your symptoms and where you have growths or tumors, there are certain symptoms that mean you need immediate medical care. The most common of these is status epilepticus (SE).

SE is when you have a seizure that lasts longer than five minutes or have two or more seizures in a row without time between them to recover. SE is a life-threatening medical emergency. If you’re with someone with seizures that meet either of these definitions, you should immediately call 911 (or your local emergency services number).

Other symptoms that mean you need medical attention can vary. Your healthcare provider is the best person to tell you what symptoms you should watch for, and what you can do if you experience or notice them.

A note from Cleveland Clinic

Tuberous sclerosis complex (TSC), also known as tuberous sclerosis, is a rare genetic condition. This condition causes noncancerous tumors to grow in various places throughout your body, especially in your brain or on your skin. Thanks to advances in modern medicine and imaging technology, it’s often possible to monitor and treat this condition as needed throughout your life. Many people with TSC can live long, healthy lives.