Tuberous sclerosis

Tuberous sclerosis

Description, Causes and Risk Factors:

Phacomatosis characterized by the formation of Multisystem hamartomas producing seizures, mental retardation, and angiofibromas of the face; the cerebral and retinal lesions are glial nodules; other skin lesions are hypopigmented macules, shagreen patches, and periungual fibromas; autosomal dominant inheritance with variable expression, caused by mutation in either the tuberous sclerosis gene (TSC1) on chromosome 9q or TSC2 on 16p.

Tuberous sclerosis is the result of a mutation on a gene controlling cell division and growth. Two different genetic changes have been found to cause the disease. Gene TSC1 is located on the long arm of chromosome 9 (9q34) and controls the formation of (codes for) a protein named hamartin. The other is gene TSC2, located on the short arm of chromosome 16 (16p13.3) and codes for the protein tuberin. These two proteins work together to inhibit the mTOR complex which in active form accelerates the creation, growth and development of cells. Uninhibited cell development and growth cause the many tumor-like growths characteristic of the disease.

In some families the mutated gene does not appear to be located on either chromosome 9 or 16, so there is/are presumably one or more genes which can cause tuberous sclerosis. Mutations on TSC2 are more common than mutations on TSC1. There are also indications that TSC2 mutations may be associated with more severe symptoms. However, it is still not possible to determine the prognosis in individual cases by identifying the underlying mutation.

The chance of getting tuberous sclerosis is the same for both sexes. All ethnic groups are equally affected by the condition.

The prognosis for individuals with tuberous sclerosis depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.


Symptoms vary depending on the location of the tumors. Common symptoms include,

    Skin problems, such as light patches and thickened skin.

  • Seizures.

  • Behavior problems.

  • Learning disabilities.

  • Mental retardation.

  • Kidney problems.

Epilepsy is the most common neurological symptom of tuberous sclerosis, affecting up to 9 out of 10 people with the condition. Possible difficulties include, having a poor memory, having a low attention span, finding it difficult to make plans or organize activities.

Other behavior problems include:


  • Impulsive behavior.

  • Aggression.

  • Anxiety.

  • Extreme shyness.

  • Depression.

  • Personality changes.

  • Disorientation.

Other symptoms:


  • Nausea and vomiting.

  • Visual problems.

  • Patches on the skin.

  • Tiredness.

  • Shortness of breath.

  • Blood in the urine.

  • Chest pain.

  • Dizziness.

  • Developmental delays.

  • Intellectual disability.

  • Pitted tooth enamel.

  • Rough growth under or around the fingernails and toenails.

  • Rubbery non-cancerous tumors on or around the tongue.


    Abnormal heart rhythm.

  • Calcium deposit in the brain.

  • Non-cancerous tubers in brain.

  • Rubbery growth on the tongue or gums.

  • Tumors of the brain and kidney.


A number of tests can also help to confirm a diagnosis of tuberous sclerosis. These are:

    An eye examination - eye tumors can often be the first sign of tuberous sclerosis.

  • A skin examination - an ultraviolet light is often used during the examination because it can reveal skin lesions that have lost their color (depigmented) or white patches.

  • A magnetic resonance imaging (MRI) scan, which can often detect tumors within the brain.

  • A computerized tomography (CT) scan and ultrasound scan - these scans can often detect tumors within the kidneys, heart or lungs.

  • An electroencephalogram (EEG) - a test that can detect abnormal electrical activity within the brain.

  • An electrocardiogram (ECG) - a test that can detect abnormal electrical activity within the heart.

Genetic testing: DNA testing for either of the two genes that can cause this disease (TSC1 or TSC2) is available.


There is no cure for tuberous sclerosis, although treatment is available for a number of the symptoms. In October 2010, the U.S. Food and Drug Administration approved the use of the generic drug everolimus to treat benign tumors called subependymal giant cell astrocytomas (SEGA) in individuals with tuberous sclerosis who require treatment but are not candidates for surgery. Antiepileptic drugs such as vigabatrin 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. Because tuberous sclerosis is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of tuberous sclerosis care by a clinician experienced with the disorder is recommended.

Brain tumors can be treated with medicines called mTOR inhibitors (sirolimus, everolimus).

Kidney tumors are treated with surgery, or by reducing the blood supply using special x-ray techniques. Recently mTOR inhibitors are being studied as another treatment for kidney tumors.

If your child is experiencing behavioral problems or has a learning disability, it is likely that they will be referred to a Psychologist. They will assess your child's learning ability and their likelihood of developing behavioral problems. As part of the assessment process, a special educational needs plan may be drawn up. The plan is designed to provide the most effective type of education that will meet your child's strengths and weaknesses. Some children with tuberous sclerosis may also benefit from attending special educational centres. Others will be able to attend a mainstream school but may need extra support during lessons.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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