Tuberous sclerosis & bull; hello healthy

Definition

What is tuberous sclerosis?

Tuberous sclerosis is a condition in which small tumors develop in many parts of the body, such as the skin, kidneys, brain, heart, eyes, and lungs. Tumors are often non-malignant (non-cancerous), which can cause other problems. This syndrome occurs in 1 in every 10,000 people.

How common is tuberous sclerosis?

Tuberous sclerosis is a genetic disease. This disease can be inherited from the family and passed from parents to children. People who have relatives who have tuberous sclerosis can develop this disease.

Signs & symptoms

What are the signs and symptoms of tuberous sclerosis?

Tuberous sclerosis appears at birth, but signs and symptoms do not appear immediately. The diagnosis was then given at 10 years of age. Most parents and their children only have tumors on one limb, for example the skin.

Symptoms can vary from person to person, ranging from mild to severe. Severe symptoms can include learning difficulties and low intelligence, but many people still have normal or above average IQs. In addition, common symptoms are white spots on the surface of the skin (usually on the feet), and red bumps on the skin.

Other symptoms are rough skin on the lower back and polyps around the nails, especially toenails. Tooth enamel can tear, and convulsions can appear. Nervous or physical development can be hampered. This depends on the location of the tumor in your or your child's brain.

Some of the other symptoms or signs may not be listed above. If you feel anxious about these symptoms, consult your doctor immediately.

When should I see a doctor?

Symptoms of tuberous sclerosis can be detected at birth. Or it may be that the first signs of illness become more pronounced in childhood or even in adulthood. Call your doctor if you are worried about your child's development or notice any of the above signs or symptoms.

Cause

What causes tuberous sclerosis?

Tuberous sclerosis is a genetic disease that runs in families and is passed from parent to child. There are two kinds of genetic diseases, namely chromosome 9 (TSC1 gene) and 15 (TSC2 gene). However, only one third of cases are inherited in the family. Another cause may be a new mutation. Mutations are changes in DNA or other substances in the body that carry the genetic code.

Risk factors

What increases my risk for tuberous sclerosis?

About one-third of patients with tuberous sclerosis inherit the TSC1 or TSC2 GMO-related tuberous sclerosis gene from the parent. Approximately two-thirds of patients have a new genetic mutation of the TSC1 or TSC2 gene. The severity of this disease can vary. Parents with tuberous sclerosis can have children with milder or more severe disease.

Drugs & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are my treatment options for tuberous sclerosis?

Treatment is carried out depending on the condition. Some people with mild disease do not need treatment. Skin tumors can be removed with laser or surgery. Medicines can cure epilepsy and tumors. Surgery can remove tumors in the body, such as the kidneys or brain. Children may need mental and habit development checks. Early prevention can help children develop effectively. This disease has long-term effects. Even after treatment, you or your child will still need regular check-ups. Treatment can be repeated if the tumor grows back.

What are the usual tests for tuberous sclerosis

This disease is difficult to diagnose. The doctor will get a medical history and physical examination to provide an initial, provisional diagnosis. Seizures, cramps, or a rash on your or your child's face may be a symptom of the disease. A variety of tests can be given, including an EEG to check brain activity. The magnetic resonance imaging (MRI) method is useful for identifying tumors. The EKG helps determine if the heart is also affected. The eye is examined for anomalies. Urine tests are also important to find kidney problems. Doctors with different specialties can participate in the treatment of this complex disease.

Home remedies

What are some lifestyle changes or home remedies that can be done to treat tuberous sclerosis?

Lifestyle and home remedies below may help overcome this disease:

Join support group for families affected by this or other neurodegenerative diseases
Consult a doctor about the effects of the disease on the child the next day

If you have any questions, consult your doctor for the best solution to your problem.