What is tuberous sclerosis?

Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a rare genetic condition that causes noncancerous (benign) tumors to grow in different parts of the body. These growths can appear in the brain, kidneys, heart, skin, eyes and lungs.

Even though these tumors are not cancer, they can affect how organs work based on their size and location.

Tuberous sclerosis usually begins in infancy or childhood. Some children have mild symptoms, while others have more complex medical needs. Because the condition can affect several organs, many children benefit from care from a team of specialists. At Children’s Hospital of Philadelphia (CHOP), specialists in neurology, nephrology, cardiology, dermatology, ophthalmology, pulmonology and developmental medicine work together so families receive clear guidance and consistent support.

With early diagnosis, regular monitoring and the right treatments, many children with tuberous sclerosis can manage their symptoms and lead active lives.

What are the causes of tuberous sclerosis?

Tuberous sclerosis happens because of a change (mutation) in one of two genes: TSC1 or TSC2. These genes help control cell growth. When one of them does not work properly, cells may grow too quickly and form tumors.

A child can develop tuberous sclerosis in one of two ways:

• A new gene change (most common) – About two-thirds of children with tuberous sclerosis have a new genetic change that occurs before birth. No one else in the family has the condition.
• An inherited gene change – A parent who has tuberous sclerosis can pass the gene change to their child. Each child has a 50% chance of inheriting the condition. Symptoms can vary widely within a family. One person may have mild symptoms, while another needs ongoing medical care.

What are the signs and symptoms of tuberous sclerosis?

Tuberous sclerosis affects children differently. Symptoms depend on where tumors grow and how they affect nearby organs.

Common symptoms include:

• Seizures – Seizures are often the first sign of tuberous sclerosis. Some babies have a specific type of seizure called infantile spasms.
• Skin changes – Children may have:
  • Light patches on the skin
  • Thick or raised areas of skin that look like orange peels 
  • Small bumps on the face that look like acne
  • Growths around or under fingernails or toenails
• Developmental or learning differences – Some children may have developmental delays, learning challenges, or conditions such as autism or ADHD.
• Kidney growths – Cysts and noncancerous kidney tumors called angiomyoliomas are common and may grow over time.
• Heart tumors – Some babies are born with heart tumors called rhabdomyomas, which often shrink as the child grows.

Other possible symptoms:

• Behavioral challenges
• Vision changes from eye lesions
• Breathing problems if the lungs are affected
• Dental pits or tooth changes

Because symptoms vary so much, some children need only occasional monitoring, while others need care from several specialists.

How do you test for and diagnose tuberous sclerosis?

Doctors diagnose tuberous sclerosis by reviewing symptoms, performing a physical exam and ordering tests to look for tumors.

Diagnosis may include:

• Physical examination – Doctors check for skin changes, growths and developmental differences.
• Imaging tests – These tests help identify tumors in different organs:
  • MRI of the brain to look for brain growths
  • Kidney ultrasound to check for kidney cysts and tumors
  • Echocardiogram (heart ultrasound) to look for heart tumors
• Genetic testing – A blood test can help identify a change in the TSC1 or TSC2 gene.

Some babies are diagnosed before birth if a prenatal ultrasound shows heart tumors. Others are diagnosed later, often after seizures or other symptoms appear.

What are the treatments for tuberous sclerosis?

There is no cure for tuberous sclerosis, but treatment can manage symptoms, protect organ function and support your child’s development.

Because the condition affects many parts of the body, care often involves a team that may include neurologists, kidney specialists, cardiologists, dermatologists and developmental experts. A coordinated care team communicates closely, plans next steps together and helps you understand options at every stage.

Treatment may include:

Medications 

Medicines can help manage many symptoms, such as:

• Anti-seizure medications to control epilepsy
• mTOR inhibitors, targeted medicines that can shrink certain brain or kidney tumors
• Topical treatments to manage skin growths

Surgery or procedures 

Some children need procedures when tumors affect how an organ works. These may include:

• Brain surgery to treat tumors causing seizures
• Procedures to treat kidney tumors
• Laser treatments for skin growths

Doctors recommend surgery only when it is clearly the best option.

Developmental and supportive therapies 

Therapies can help children build skills and support learning:

• Physical therapy
• Occupational therapy
• Speech therapy
• Behavioral or mental health support

Early intervention gives children the best chance to reach their full potential.

What follow-up care is needed for tuberous sclerosis?

Tuberous sclerosis is a lifelong condition. Regular monitoring helps doctors identify changes early and take action.

Follow-up care may include:

• Routine brain imaging
• Kidney imaging 
• Heart evaluations
• Eye exams
• Developmental screenings

Ongoing care is a team effort. Your child’s specialists share information and adjust the care plan together as needs change. 

Regular visits with a specialized team help make sure your child receives the right care at every stage.

What is the long-term outlook for children with tuberous sclerosis?

The outlook varies from child to child. Some children have mild symptoms and live independent, active lives. Others may need ongoing medical or developmental support.

With early diagnosis, supportive therapies and coordinated specialty care, many children with tuberous sclerosis continue to grow, learn and thrive. 

Families do not have to manage this condition alone. With the right care team and support, children with tuberous sclerosis can make progress over time.