Sclerosis tuberosa, also known as tuberous sclerosis complex (TSC), is a lifelong genetic disorder that causes noncancerous tumors (benign growths) to develop in various parts of the body. These tumors can lead to a wide range of symptoms, depending on their size and location.
TSC is caused by mutations in either the TSC1 or TSC2 gene. These genes are responsible for controlling cell growth and division. When they don’t function properly, it can lead to uncontrolled cell growth and tumor formation.
How common is it?
TSC affects around 1 in 6,000 people, and while it can be inherited, two-thirds of cases are due to spontaneous mutations. It can affect both sexes and all ethnic groups equally.
Symptoms typically begin in childhood, but some cases are only diagnosed in adulthood due to mild or delayed onset.
Common symptoms and affected organs
Tuberous sclerosis is a multi-system disorder, which means its symptoms can vary widely depending on which organs are involved. The most commonly affected systems include:
Brain
- Seizures – Often the first and most common symptom in children with TSC
- Cognitive disabilities – Varying levels of intellectual development
- Autism spectrum disorder (ASD) – Seen in many individuals with TSC
- Behavioral challenges – Hyperactivity, aggression, anxiety
Skin
- Hypomelanotic macules – White patches on the skin
- Facial angiofibromas – Small, reddish bumps typically around the nose and cheeks
- Shagreen patches – Thickened, leathery skin, often on the back
- Ungual fibromas – Growths near the nails
Kidneys
- Angiomyolipomas – Fatty tumors that can cause pain, bleeding, or kidney failure
- Cysts – May be benign but can grow over time
Heart
- Rhabdomyomas – Heart tumors, typically appearing in infants. Often shrink with age and rarely cause long-term issues
Lungs
- Particularly in women, TSC may cause lymphangioleiomyomatosis (LAM), a progressive lung disease that affects breathing
How is sclerosis tuberosa diagnosed?
Diagnosis is based on clinical features, imaging, and genetic testing. Criteria include a combination of major and minor signs, such as specific types of tumors or skin lesions.
Common diagnostic steps include:
- MRI scans of the brain and kidneys
- Echocardiogram and ECG for heart evaluation
- Skin examination under a Wood’s lamp
- CT scans or lung function tests in adults
- Genetic testing to confirm mutations in TSC1 or TSC2 genes
Early diagnosis is key to managing complications proactively.
Treatment options
There is no cure for sclerosis tuberosa, but treatment focuses on managing symptoms and preventing complications.
Medications
- mTOR inhibitors (e.g., everolimus, sirolimus) can shrink tumors and improve seizure control
- Anti-epileptic drugs (AEDs) to manage seizures
- Behavioral and psychiatric medications for mental health and focus issues
Surgical options
- For tumors causing complications, surgery may be necessary — particularly in the kidneys or brain
- Some patients may undergo surgery to reduce seizure activity when medications fail
Therapies and support
- Speech, occupational, and physical therapy for developmental delays
- Educational support plans tailored to each child’s needs
- Psychological counseling for families and caregivers
Care is usually coordinated by a multidisciplinary team including neurologists, nephrologists, dermatologists, and behavioral specialists.
Living with sclerosis tuberosa
Thanks to earlier diagnosis and better therapies, many people with TSC now live full and meaningful lives. However, the condition requires lifelong monitoring and flexible care plans that adapt to changes over time.
Key elements for long-term management:
- Regular follow-up scans and tests (e.g., every 1–3 years)
- Routine developmental evaluations in children
- Monitoring of kidney and heart function
- Skin checks and dermatologic care
- Mental health support for both patient and family
Parents of children with TSC often become strong advocates and experts in their child’s care. Joining patient support organizations can provide valuable resources and community.
Research and hope for the future
Ongoing research into the mTOR pathway, gene therapies, and novel anti-epileptic treatments is offering new hope to TSC patients. Clinical trials continue to explore how to improve quality of life and even reverse some aspects of the disorder.
Organizations like the Tuberous Sclerosis Alliance and European equivalents actively fund research and offer guidance to affected families.
Cryopreservation: planning beyond the present
For some families dealing with complex, life-limiting diseases, thinking beyond conventional treatment becomes part of the journey. At Tomorrow.bio, we offer human cryopreservation — a process that preserves individuals after legal death at ultra-low temperatures, with the hope that future medicine might one day offer revival and treatment.
Cryopreservation is not a cure and not guaranteed, but it provides a unique opportunity for those who want to keep the door open to future advancements — especially when today’s science has limitations.
We’re here to provide honest answers for those who wish to explore this emerging field with care and clarity.
About Tomorrow.bio
At Tomorrow.bio, we are dedicated to advancing the science of cryopreservation with the goal of giving people a second chance at life. As Europe’s leading human cryopreservation provider, we focus on rapid, high-quality standby, stabilization, and storage of terminal patients — preserving them until future medical technologies may allow revival and treatment.
Our mission is to make human cryopreservation a reliable and accessible option for everyone. We believe that no life should end because current medical capabilities fall short.
Our vision is a future where death is optional — where people have the freedom to choose long-term preservation in the face of terminal illness or fatal injury, and to awaken when medicine has caught up.
📧 Contact us at: hello@tomorrow.bio
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