Children's Hospital Colorado

Tuberous Sclerosis

What is tuberous sclerosis complex?

Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs including the brain, heart, eyes, kidney, lungs, liver, oral cavity and skin.

The tumors are not cancerous, but depending on their size and location, they may cause serious problems such as behavioral disorders, seizures and developmental delay

What causes tuberous sclerosis complex? 

A patient develops tuberous sclerosis when they inherit a genetic mutation in the TSC1 or TSC2 genes. These genes make a pair of proteins that scientists believe prevent tumors in non-affected people.

TSC is inherited in an autosomal dominant manner, meaning a child needs to receive only one copy of a mutated gene to develop the condition. About 40% of cases are due to genetic mutations passed down from a family member. The remaining 60% of TSC patients have a new genetic mutation that causes the disorder.

Who gets tuberous sclerosis complex?

People from all ethnic groups develop tuberous sclerosis complex. Both males and females are equally affected. Tuberous sclerosis complex occurs in approximately 1 in 6,000 births. Approximately 50,000 people in the United States, and more than one million worldwide, have TSC.

Helpful TSC resources:

What are the signs and symptoms of tuberous sclerosis complex (TSC)?

The affects of TSC varies from mild to severe. Symptoms differ from patient to patient, depending on which organ systems are affected, and can include:

  • Neurological symptoms include seizures, developmental delays, autism spectrum disorders, obsessive compulsive-disorder and other behavior problems.
  • Tumors in the heart can cause circulation problems.
  • Skin symptoms include:
  • White pigment-less spots on the skin also called ash-leaf spots or hypomelanotic macules
  • Rough, thick skin patches found on the back or back of the neck called shagreen patches
  • Tumors that grow in or around the beds of fingernails and toenails called ungual or subungual fibromas
  • Tumors in the kidney are common, but usually do not cause symptoms until the teen years.

What tests are used to diagnose tuberous sclerosis complex?

Your child’s doctors will likely perform several tests to help him or her diagnose tuberous sclerosis complex (TSC). These tests may be arranged before, during or after your visit to Children’s Hospital Colorado.
The most common TSC tests include procedures to help doctors physically see any tumors like:

  • Brain MRI and other advanced neuro-imaging to visualize tumors
  • EKG
  • Echocardiogram
  • Electroencephalogram (EEG)
  • Chest computerized tomography (Chest CT )
  • Renal ultrasound

A genetic test will also be performed to find out if your child has a known mutation in the TSC1 or TSC genes.
If your child is diagnosed with TSC, he or she will usually have a brain MRI and ultrasound of the kidneys each year to check tumor growth. Other tests may be performed as needed, depending on how and where a child is affected.

How do providers at Children’s Hospital Colorado make a diagnosis?

Tuberous sclerosis can be diagnosed clinically, through a physical examination, or genetically, with a blood test.

A doctor at Children’s Colorado will make a clinical diagnosis after finding positive signs of the disease, such as skin conditions or tumors in the brain, heart or kidneys. Signs of TSC on the skin are often used to diagnose the condition.

The Tuberous Sclerosis Clinic at Children’s Hospital Colorado

The Tuberous Sclerosis Clinic has a multidisciplinary team to provide medical, genetic, neuropsychological, dermatological and social support for tuberous sclerosis complex (TSC) patients and their families.

During your visit to the clinic, your child will see a pediatric neurologist, dermatologist, genetic counselor and neuropsychologist. Our social worker and community alliance volunteer will also provide supportive counseling and can assist patients and families with obtaining resources and support within the community. This appointment will last about three hours.

Our TSC Clinic participates with the TS Alliance to offer their TSC Clinic Ambassador Program. This program pairs a Community Alliance volunteer with our clinic to help families affected by TSC, especially those newly diagnosed, deal with the emotional challenges of the disorder. Clinic Ambassadors share their personal experience with TSC, provide local and regional resource information, and inform them about TS Alliance Community Alliance activities.

Follow-Up Clinic for Tuberous Sclerosis

Our follow-up clinic provides ongoing care for your child’s medical, psychological and social needs. During yearly follow-up visits, your child will be evaluated by our multidisciplinary team to evaluate the progression of TSC and create a treatment plan to address any new physical or behavioral developments. Our social worker and community alliance volunteer will also provide supportive counseling and assist with obtaining resources and support within the community. Follow-up visits also last approximately three hours.

Why choose Children’s Hospital Colorado for tuberous sclerosis complex?

At the Tuberous Sclerosis Clinic at Children's Colorado, we have an entire team of pediatric experts working to provide multidisciplinary care to children with TSC. We’re also working to further research efforts that may one day lead to better treatment and cures for TSC.

Additionally, our hospital’s location on the Anschutz Medical Campus enables us to provide comprehensive care with a focus on education and research for both children and adults. We collaborate with adult neurologists at the University of Colorado Hospital and School of Medicine to care for patients with TS throughout childhood and into their adult life.

Sending medical records before your appointment

It is important that we review all medical records including any diagnostic tests prior to your visit. If you have records from outside Children's Colorado, please mail them to us prior to your child’s appointment. Please provide X-rays (MRI, etc.) on disk and mail to:

Children's Hospital Colorado
Tuberous Sclerosis Clinic
13123 E. 16th Ave., Box B155
Aurora, CO 80045