Tuberous sclerosis

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Tuberous sclerosis is a rare genetic disease resulting in the growth of many noncancerous tumors on various important organs. Read and know all about the disease, including its possible causes, symptoms, diagnosis and treatment options.

Tuberous sclerosis Definition

It refers to a group of two genetic conditions that leads to the growth of many benign (noncancerous) tumors in a number of regions in the body, such as:

  • Brain
  • Skin
  • Heart
  • Kidneys
  • Nervous system

The disorders are named after a root or tuber-shaped growth in the brain.

The condition is also referred to by various other names, such as Tuberous sclerosis complex (TSC) and Adenoma sebaceum.

Tuberous sclerosis ICD9 Code

The ICD9 Code of this disease is 759.5.

Tuberous sclerosis Incidence

In the United States, the condition has a birth incidence in one out of every 6,000 individuals. It has a prevalence of one out of every 10,000 people.

The disorder affects all races and does not show a prominent racial predominance. It affects both sexes equally. According to some studies, males are more likely to suffer from neurological morbidity. However, this has not been conclusively demonstrated. TSC can arise at any age.

Tuberous sclerosis Symptoms

The signs and symptoms of this disorder involve:

Skin symptoms

These include:

  • Red patches over the face, that comprise of many blood vessels (Adenoma sebaceum)
  • Whiteness of various skin regions and having an appearance like confetti or an ash leaf
  • Elevated skin patches with an orange-peel texture (shagreen spots), frequently arising on the back

Brain symptoms

These involve:

  • Seizures
  • Intellectual disability
  • Delays in development

There can also be some other problems like:

  • Pitted tooth enamel
  • Benign, rubber-textured tumors arising on or around the tongue
  • Development of rough growths around or under the nails of the fingers and toes

Tuberous sclerosis Causes

The cause of this condition is heredity. This is an inherited disorder. Mutations or changes in two genes, TSC1 and TSC2, lead to the development of this disease. These genes are usually supposed to prevent very fast or uncontrolled growth of cells. Mutations occurring in either the TSC1 or the TSC2 gene can cause excessive division of these cells, resulting in the growth of many lesions throughout the body of sufferers. Researchers are yet in the dark regarding the exact causes of these genetic mutations.

A child can get affected by this disease by getting the mutated gene from only one parent. The majority of cases of this disorder arise as a result of new mutations. Due to this reason, there is generally no family history of the condition.

The condition belongs to a group of disorders known as Neurocutaneous syndromes. Both the central nervous system (CNS) and the skin are involved.

Tuberous sclerosis Risk Factors

There are no known risk factors associated with this condition, other than having a parent with it. In such cases, each child has a 50% risk of inheriting the disorder. A person suffering from the disease has a 50% chance of passing it on to his or her biological children. The severity of the disorder may vary in nature. An individual having a mild form of the disease may have a child with a more acute form of the condition.

Approximately one-third of all individuals with the disease inherit a mutated TSC1 or TSC2 gene from a parent having the disorder. These are genes related to TSC. Around two-thirds of individuals with TSC have a new mutation in the TSC1 or the TSC2 gene.

Tuberous sclerosis Diagnosis

A child affected by this disorder is likely to be evaluated by different specialists who are trained to detect and cure problems of the areas where the tumors develop. The following doctors and specialists may be approached and consulted in case of tumors arising on the following regions of the body:

  • Eyes (Ophthalmologist)
  • Heart (Cardiologist)
  • Brain (Neurologist)
  • Skin (Dermatologist)
  • Kidneys (Nephrologist)

In case a child reports of seizures, diagnostic testing is likely to include:

Electroencephalogram (EEG)

This exam records electrical activity in the brain and can help accurately determine the exact cause of the seizures in children.

In order to detect abnormal lumps on the kidneys and brain, diagnostic testing is likely to involve the following exams:

Ultrasound

This exam involves use of high-frequency audio-waves to create images of body parts like kidneys on a monitor.

Computerized Tomography (CT) Scan

It is an X-ray technique that creates images of the brain or other areas of the human body. The images produced in this scan are more detailed than those that are produced by standard X-ray tests.

Magnetic Resonance Imaging (MRI)

This exam makes use of radio waves and a magnetic field to produce cross-sectional images of the brain or other regions of the body.

In order to assess whether or not the heart of a child is affected, diagnostic testing is likely to include:

Electrocardiogram (ECG)

This exam records the electrical activity of the heart.

Echocardiogram

The test makes use of audio waves to produce images of the heart.

Doctors are also likely to carry out a physical examination. The skin and eyes of children would be examined thoroughly for lesions that are commonly related with TSC.

If a child is detected with TSC without a family history of the disease, parents may also consider screening for the condition. Monitoring and follow-up care is essential, even for mild cases of TSC that were undetected earlier.

Tuberous sclerosis Treatment

There is no particular treatment for this condition. As the disorder can differ from one person to another, treatment is based on the signs and symptoms of patients. Medical cure aims at the management of the symptoms.

The treatment options for the disorder include:

Psychological therapy

Consultation with a mental health therapist may help patients or their children adjust and accept to living with the condition.

Occupational therapy

People suffering from TSC can improve their ability to handle daily tasks through occupational therapy.

Educational therapy

Early therapeutic intervention can help affected kids overcome delays in development and meet their full potential in school.

Medications

Anti-epileptic medicines may be prescribed by doctors to control seizures. Other drugs may be administered by doctors to help manage problems in behavior. A medicine known as Everolimus (Zortress, Afinitor) is used to cure some forms of brain growths that cannot be removed in TSC patients with operation.

Another drug that may prove to be useful for brain growths and other problems resulting from TSC is an immunosuppressive drug known as Sirolimus (Rapamune). A topical application of this medicine may help cure the skin lesions (resembling acne) associated to TSC. However, Sirolimus is still being assessed in clinical trials and considered to be an experimental curative option as a treatment for TSC.

Surgery

Surgical removal may be opted for if a lesion affects the ability of a particular organ, like the kidney. In some patients, operation can help control seizures resulting from brain lesions that fail to respond to drugs. Surgical methods like laser treatment or Dermabrasion may improve the appearance of the lesions arising over the skin of sufferers.

Tuberous sclerosis Prognosis

Children affected by mild forms of the disorder generally do well. However, children with uncontrollable seizures or acute mental disability generally have a poor outcome. In some cases, when a child is born with severe TSC, one parent is found to suffer from a mild case of the disease that was undiagnosed.

In TSC patients, the tumors tend to be benign. However, some of the tumors (such as those on the brain or the kidney) may turn malignant.

Tuberous sclerosis Complications

The complications of the disorder may vary in nature, based on the location of development of the lesions. The lesions in the lungs can cause failure of the organ. Those in the kidney can result in its failure. However, it is only rarely that kidney lesions can turn cancerous in form.

Eye lesions can interfere with vision if they block a large section of the light-sensitive tissue situated at the retina (or the back of the eye). However, this only occurs in rare cases.

Cardiac lesions can obstruct blood flow or lead to Dysrhythmia (problems with heart rhythm). These growths are generally the largest at the time of birth and shrink with advancing age of children.

Brain lesions referred to as Subependymal giant cell astrocytomas or SEGA can obstruct the flow of cerebral spinal fluid inside the brain. This obstruction can manifest itself in the form of various symptoms, which include behavioral changes, headaches and nausea.

TSC can also lead to other problems like uncontrollable seizures and severe intellectual disability.

Tuberous sclerosis Prevention

Couples having a family history of the disorder and planning pregnancy can derive benefit from genetic counseling. Prenatal diagnosis is available for those families that are known to have a history of the disease. TSC often develops as a result of a new DNA mutation and these cases cannot be prevented.

Tuberous sclerosis Support Groups

Life can be pretty challenging for TCS patients and their parents or family members. The condition is very difficult to predict and has a negative impact on the academic, physical and social abilities of a child. It can lead to mild problems in some sufferers and more acute difficulties in others. Common problems like emotional and social withdrawal, aggression, raging outbursts and repetitive behavior can be very difficult to cope up with. However, discovering and curing problems on an early basis would help maximize the chances of a good outcome for sufferers. Patients of TSC and their family members would find it very useful to get valuable information and assistance from any of the various support groups associated to the disorder.

Sufferers can contact the Tuberous sclerosis Alliance at 800-225-6872. The Tuberous sclerosis Association can be reached at 01332 250734. Parents may also get in touch with the doctor of their child and know about any local forums or support groups that offer assistance.

Tuberous sclerosis Pictures

The following images help you understand the physical appearance of TSC patients.

Picture of Tuberous sclerosis

Picture 1 – Tuberous sclerosis

 Image of Tuberous sclerosis

Picture 2 – Tuberous sclerosis Image

Although Tuberous sclerosis does not have any cure, its symptoms can be managed with the aid of proper medical treatment. If you or any of your family members is suffering from the symptoms of TSC, it is important that you seek diagnosis and medical treatment on an immediate basis.

References:

http://www.mayoclinic.com/health/tuberous-sclerosis/DS01032

http://www.nlm.nih.gov/medlineplus/ency/article/000787.htm

https://en.wikipedia.org/wiki/Tuberous_sclerosis

http://emedicine.medscape.com/article/1177711-overview

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