What is Tuberous Sclerosis?

Tuberous Sclerosis is a rare genetic disorder that causes non-cancerous (benign) tumors to grow in various organs, including the brain, skin, kidneys, heart, and lungs. It affects many body systems and can lead to a range of symptoms.

What Causes Tuberous Sclerosis?

Tuberous Sclerosis is caused by mutations in either the TSC1 or TSC2 genes. These mutations disrupt normal cell growth and division, leading to tumor formation. It is usually inherited in an autosomal dominant pattern but can also occur as a new mutation.

What are the Symptoms of Tuberous Sclerosis?

Symptoms vary widely depending on the organs involved and may include:

• Skin abnormalities such as patches of light-colored skin, facial angiofibromas (small reddish bumps), or shagreen patches (thickened, leathery skin).
• Seizures, often starting in infancy or childhood.
• Developmental delays or intellectual disability.
• Behavioral problems like autism or hyperactivity.
• Kidney cysts or tumors.
• Heart tumors called rhabdomyomas, especially in infants.
• Lung problems in adults, such as lymphangioleiomyomatosis (LAM).

How is Tuberous Sclerosis Diagnosed?

Diagnosis involves:

• Clinical examination of skin and neurological symptoms.
• Imaging tests such as MRI or CT scans to detect brain and organ tumors.
• Genetic testing to identify mutations in TSC1 or TSC2 genes.
• Eye examination to check for retinal lesions.

How is Tuberous Sclerosis Treated?

There is no cure, but treatment focuses on managing symptoms:

• Antiepileptic drugs to control seizures.
• Surgery or laser therapy for skin lesions.
• Medications like mTOR inhibitors to reduce tumor growth.
• Supportive therapies for developmental and behavioral issues.
• Regular monitoring of affected organs to manage complications.

What is the Prognosis for Tuberous Sclerosis?

Prognosis varies widely depending on the severity and organs affected. Early diagnosis and treatment can improve quality of life and reduce complications. Some individuals have mild symptoms, while others may face significant challenges.

Can Tuberous Sclerosis Be Prevented?

Since it is a genetic condition, prevention is not currently possible. Genetic counseling is recommended for affected families to understand risks and options.

When Should You See a Doctor?

Seek medical advice if:

• You notice unusual skin changes or seizures in a child.
• There is a family history of Tuberous Sclerosis.
• Developmental delays or behavioral issues appear.
  Early diagnosis helps in managing symptoms effectively.