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.
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.
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.
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.
Tuberous sclerosis can cause serious — and sometimes life-threatening — complications, as well as physical and intellectual disabilities.
Complications may include:
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.
Tuberous sclerosis is a rare condition that affects one in 6,000 to 10,000 people.
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.
Seizures or delayed development in childhood may be the first signs of tuberous sclerosis.
Other symptoms may include:
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.
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.
During your visit, your doctor will:
Several tests can be used to diagnose tuberous sclerosis, including:
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.
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.
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:
Treatment may include:
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 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 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.
Your doctor may recommend physical, behavioral, occupational, or speech therapy to manage tuberous sclerosis symptoms.
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.
When you choose UPMC for tuberous sclerosis care, you will receive:
By UPMC Editorial Staff. Last reviewed on 2025-04-24 by Faizan Syed, MD.
