Tuberous Sclerosis – Symptoms and Causes
Overview
Tuberous sclerosis complex (TSC) is a rare genetic condition. It causes non-cancerous tumors to grow in various parts of the body. These benign growths can develop in organs like the brain, heart, lungs, kidneys, skin, and eyes.
The severity of symptoms varies greatly from person to person, depending on tumor location and size.
Most cases of TSC are diagnosed during childhood. However, some individuals with mild symptoms may remain undiagnosed until adulthood or throughout their lives. The condition can range from barely noticeable to causing significant disabilities.
Key facts about TSC:
- Genetic disorder affecting multiple body systems
- Characterized by benign (non-cancerous) tumors
- Variable symptom severity
- Often identified in infancy or childhood
- No cure currently available
While there is no cure for tuberous sclerosis, medical treatments can help manage specific symptoms. Doctors cannot predict exactly how the condition will progress for each person.
Regular monitoring and appropriate medical care are important parts of managing this condition effectively.
Signs and Symptoms
Tuberous sclerosis creates non-cancerous growths in various body parts. These growths most often affect the skin, brain, eyes, kidneys, heart, and lungs, but can appear anywhere.
Symptoms vary widely from mild to severe based on where growths develop and how large they become.
Common symptoms include:
Skin Changes: Many patients develop lighter skin patches and areas of thickened skin. The forehead may show raised, discolored spots. Small bumps can appear around fingernails and toenails. Facial growths resembling acne often develop in childhood.
Seizures: Brain growths frequently cause seizures, which are often the first noticeable symptom. Young children may experience infantile spasms, where the arms and legs stiffen while the back and head arch.
Thinking and Learning Challenges: Some people experience developmental delays or limitations in thinking abilities. Related conditions like autism spectrum disorder or ADHD are common.
Behavioral Issues: Many patients show hyperactivity, self-harming behaviors, aggression, or struggle with social interactions.
Kidney Problems: Kidney growths appear frequently and often increase with age.
Heart Concerns: Heart growths are typically largest at birth and become smaller as children grow older.
Lung Issues: Growths in the lungs can cause coughing or breathing difficulties, especially during physical activity. Women develop these more often than men.
Eye Effects: White patches may appear on the retina (back of the eye) but rarely affect vision.
Dental Changes: Teeth may develop small pits. Growths sometimes form on gums, inside cheeks, or on the tongue.
When To Contact a Healthcare Provider
Tuberous sclerosis symptoms sometimes appear at birth, but they can also develop during childhood or even in adulthood. The first signs vary from person to person.
You should contact a doctor if you notice:
- Unexplained seizures
- Unusual skin patches or growths
- Developmental delays in your child
- Breathing problems without clear cause
- Any concerning symptoms that match those described above
Early diagnosis allows for better symptom management and treatment planning. If you have a family history of tuberous sclerosis, consider genetic counseling before having children.
Causes
Tuberous sclerosis develops from genetic changes in either the TSC1 or TSC2 genes. These important genes normally work to control cell growth in the body.
When mutations occur in these genes, the body loses its ability to properly regulate cell growth. This leads to cells multiplying too quickly or in an uncontrolled manner.
The result is the formation of noncancerous tumors that can appear in multiple parts of the body. These growths are characteristic of tuberous sclerosis and can affect different organs and systems.
Risk Factors
Tuberous sclerosis develops in two main ways:
Random Genetic Changes: About two-thirds of people with tuberous sclerosis have the condition due to spontaneous mutations in either the TSC1 or TSC2 gene during early cell division. These individuals typically have no family history of the disorder.
Inherited Gene Changes – The remaining one-third of cases occur when a person inherits an altered TSC1 or TSC2 gene from a parent who has tuberous sclerosis.
If you have tuberous sclerosis, there’s up to a 50% chance you will pass the altered gene to each of your biological children. The severity of symptoms can vary widely among family members.
A parent with mild symptoms might have a child with more severe manifestations of the disorder, or vice versa.
Complications
Noncancerous tumors can cause serious or potentially fatal complications depending on their location and size. These complications vary across different body systems.
When tumors grow along the brain ventricle linings, they can block the flow of protective fluid. This blockage leads to hydrocephalus, or fluid buildup around the brain. Symptoms might include an unusually large head, headaches, nausea, and behavioral changes.
Heart Issues
In infants especially, heart growths may:
- Block normal blood flow
- Disrupt heart rhythm patterns
Kidney Problems
Large kidney growths can cause:
- High blood pressure
- Bleeding
- Kidney failure in severe cases
- Rare transformation into cancerous tumors
Respiratory Complications
Lung tumors can damage tissue and lead to collapsed lungs. These growths interfere with oxygen delivery throughout the body.
Cancer Risk
People with tuberous sclerosis face a higher risk of developing cancerous tumors, particularly in the:
- Kidneys
- Brain
Vision Effects
Eye growths may impair vision if they cover significant portions of the retina, though this occurs rarely.
