May 15th is Global Tuberous Sclerosis Complex Awareness Day

By Erin McGinnis, Jelena Ivanisevic and Vera Shively

Today is Global Tuberous Sclerosis Complex (TSC) Awareness Day. TSC affects about one million people worldwide. It is a genetic condition that can impact multiple body systems, including the brain, skin, eyes, kidneys, heart, and lungs. Lurie Children’s has a specialty clinic devoted to the diagnosis and care of children and families affected by TSC.

What Causes TSC?

Genes are segments of DNA that provide instructions for the cells in our bodies to make a specific protein product for a trait or bodily function. The exact order of the DNA bases that make up a gene is called its sequence. Variation in a gene sequence that does not impact how it functions is normal. It is the reason people look different from one another. If variation occurs in a gene that disrupts how the gene functions it may cause health problems. This type of gene variant is called a pathogenic variant.

TSC is caused by pathogenic variants in the TSC1 or TSC2 gene. In healthy cells, the proteins made by TSC1 and TSC2 work together to help control cell growth and proliferation (when cells divide and multiply in number). Thus, pathogenic variants in either of these genes may lead to uncontrolled cell growth which contributes to the development of the tumors and growths that are common in TSC.

How Is TSC Inherited?

Genes come in pairs. We inherit one copy of a gene from our mother and one from our father. TSC is an autosomal dominant condition. This means that only a pathogenic variant in one copy of the TSC1 or TSC2 gene is needed to have the condition. In most cases of TSC, the pathogenic variant is brand new (de novo), seen for the first time in an affected child. In the remaining cases, TSC is inherited from a parent with the condition.

Symptoms of TSC

The type and severity of symptoms of the disorder vary widely, even among those with TSC in the same family. Tumors, or growths, in the skin, kidneys, eyes, heart, lungs or brain characterize TSC. They are usually not cancerous (benign) but may interfere with the healthy function of these organs. TSC is suspected at birth if a baby has benign tumors that form in the heart muscle called cardiac rhabdomyomas. Symptoms that can appear later in childhood or adulthood may include:

• Seizures
• Behavioral disorders (hyperactivity, aggression)
• Intellectual disability
• Autism spectrum disorder
• Attention-deficit hyperactivity disorder (ADHD)
• Skin abnormalities (patches of unusually light skin, areas of raised or thickened skin, and growths under the nails)
• Tumors on the face (facial angiofibromas)
• Kidney problems

TSC Care at Lurie Children’s

A child with TSC and their family benefit from a healthcare setting with professionals who are experienced in the diagnosis and multiple issues of this disorder. The Epilepsy Tuberous Sclerosis Clinic at Lurie Children’s is such a place and includes a multidisciplinary team with specialists in the areas listed below who work together to coordinate the diagnosis, testing and treatment needs of children and families in their care.

• Neurosurgery (surgery of the brain and spinal cord)
• Psychiatry
• Ophthalmology (eyes)
• Dentistry
• Dermatology (skin)
• Cardiology (heart)
• Pulmonary medicine (lungs)
• Nephrology (kidneys)
• Social work
• Genetics and genetic counseling

TSC Global Awareness Day serves as a way to share information about this condition and celebrate those who live with TSC. It is important for children and families affected by TSC to get care that will address their needs. The goal of the Epilepsy Tuberous Sclerosis Clinic at Lurie Children’s is to provide comprehensive quality care for individuals with TSC through our expert medical team, and participation in research that will contribute to better treatment and a cure for TSC in the future.

Additional Resources

• National Institutes of Health, Medline Plus: Tuberous Sclerosis
• TSC Alliance
• National Institute of Neurological Disorders and Stroke: Tuberous Sclerosis Fact Sheet