INFORMATION ON TUBEROUS SCLEROSIS

Tuberous sclerosis-also called tuberous sclerosis complex is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease.

Tuberous sclerosis may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. As a result, Tuberous sclerosis is frequently unrecognized and misdiagnosed for years.

The disorder affects as many as 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. Tuberous sclerosis occurs in all races and ethnic groups, and in both genders.

SYNONYMS OF TUBEROUS SCLEROSIS

Synonyms and related keywords:

1. Epiloia
2. Bourneville disease
3. Tuberous sclerosis complex

CAUSES OF TUBEROUS SCLEROSIS

Tuberous sclerosis is inherited as an autosomal dominant trait although a high percentage of cases are due to new mutations, so there usually is no family history of the disease. People of all races and sex may be affected. The condition may become apparent any time from infancy to adulthood but usually occurs between 2-6 years of age. Tuberous sclerosis is caused by defects, or mutations, on two genes-TSC1 and TSC2. Only one of the genes needs to be affected for Tuberous sclerosis to be present. Scientists believe these protein tuberin act as tumor growth suppressors, agents that regulate cell proliferation and differentiation-the processes in which nerve cells divide to form new generations of cells and acquire individual characteristics.

SYMPTOMS OF TUBEROUS SCLEROSIS

Tumors can grow on any organ, but they most commonly occur on the brain, kidneys, heart, lungs, and skin. Malignant tumors are rare in TSC. Those that do occur primarily affect the kidneys.

1. Seizures
2. Mental retardation
3. Skin lesions
4. Eye lesions
5. Behavioral problems

DIAGNOSIS OF TUBEROUS SCLEROSIS

Tuberous sclerosis is primarily diagnosed from the presence of symptoms which are epilepsy, mental retardation, facial rash, and white patches.
Use of contrast-enhanced Magnetic Resonance Images or Computed Tomography (CT) scans of the brain, magnetic resonance imaging, echocardiogram, and ultrasound scans of the abdomen. Because this disease is dominantly inherited, these tests may also be helpful for the child’s parents and siblings. A Wood's lamp or ultraviolet light may be used to locate the hypomelantic macules which are sometimes hard to see on infants and individuals with pale or fair skin.

TREATMENT OF TUBEROUS SCLEROSIS

Treatment for tuberous sclerosis depends upon the severity of the symptoms.. For more severe forms, treatment may include therapy to control seizures, surgery to remove tumors that are affecting vital organs, medication for behavioral problems, laser removal of skin lesions, medical treatment of kidney problems, and therapy for developmental delays. Antiepileptic drugs may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions.