Tuberous sclerosis is a genetic disorder which results in tumor formation in many parts of the body. The genetic defect can be inherited or it can occur in someone with no family history of the disease. Worldwide, it occurs from 1 in 5,800 to 1 in 30,000 persons, in both males and females.
What are the symptoms?
The benign (non-cancerous) tumors that develop cause many different types of symptoms based on where the tumors are located in the body.
- In the brain - The tumors which grow here are hard and resemble potatoes or tubers, and are called cortical tubers. Calcified nodules may also develop in the brain tissue. Neurological problems which occur are seizure disorders (in 60-70% of affected individuals), learning disability (40% of individuals), and behavioral difficulties such as autism, hyperactivity, attention deficit, and destructive behavior.
- On the skin - 70-80% of affected individuals have some type of skin lesion. The most common ones are small tumors (angiofibromas) on the face, nails, scalp, or forehead. Most of these tumors cause no problem for the individual but are unsightly.
- In the eyes - Benign growths on the retina, called phakomas, develop in up to 50% of affected individuals.
- In the kidneys - Abnormal growths of fatty and muscle tissue (angiomyolipomas) grow in the kidneys in 80% of affected individuals.
- In the heart - Up to 50-60% of affected individuals have heart disease, mainly tumors in the heart muscle (rhabdomyomas). However, these tumors often resolve on their own in the first few years of life.
How is it diagnosed?
Someone suspected of having tuberous sclerosis will be given a careful physical examination combined with a CT or MRI of the brain and an ultrasound of the kidneys. If the person has at least one major symptom of the disease, such as cortical tubers or tumors on the face, plus other symptoms, the diagnosis is confirmed.
How is it treated?
There is no cure or specific treatment for tuberous sclerosis. Treatment focuses on controlling or relieving symptoms such as seizures or kidney problems. Skin tumors can be reduced or removed with laser treatment by a dermatologist. Individuals with the disease will be monitored and reevaluated periodically by a multidisciplinary team to keep problems in check.
Information for this article was taken from:
- Rabindranath, N. (2001). Tuberous sclerosis. eMedicine, accessed at http://www.emedicine.com/derm/topic438.htm
- Tuberous Sclerosis Association. An information leaflet for nurses.
