Neurofibromatosis

What is Neurofibromatosis?

This is a medical disorder in which the cell growth is disturbed within your nervous system and cause tumors to form on your nerve tissue. The tumors can develop anywhere in the nervous system. This includes nerves, brain, or spinal cord. It is one of the more common tumors that found surrounding your peripheral nerves. Most of the time these tumors are benign, which means non-cancerous but there are instances in which they do become malignant, which means cancerous. This tumor can happen in all ages, sexes, ethnic groups, and races.


Types of Neurofibromatosis

There are generally two types of neurofibromatosis that physician diagnosis but there is also one rare form of this disease. What type of tumor it is depends on the cells that are involved and where it is located on your body.

Neurofibromatosis Type 1

This type is referred to as NF1 and is the most common type of this medical disorder. It will usually occur during adolescence. It was called von Recklinghausen’s neurofibromatosis or peripheral neurofibromatosis when it was first discovered because some of the symptoms appeared to be restricted to only the peripheral nervous system or the outer nerves. The name was later changed because tumors on the central nervous system started to appear. The benign tumors can first appear on:

  • Subcutaneous which means under your skin
  • Neurofibromas which means in your connective nerve tissue
  • Cutaneous which means on your skin

In some cases in this type of neurofibromatosis the tumors can become malignant, usually between three and five percent of the time. It can also be very painful.

Neurofibromatosis Type 2

This type is referred to as NF2 and is the less common type of this medical disorder and is normally found from the late teens to the early twenties. It has also been called central neurofibromatosis or bilateral acoustic neurofibromatosis. The characteristic of this type is having bilateral tumors appear on your eighth cranial nerve and usually appears on your vestibular nerve which is located near your auditory nerve. This type of neurofibromatosis can cause damage to vital structures of your body such as your brainstem or cranial nerves and other nerves close by which can make this type life-threatening.

Schwannomatosis

This is a rare form of this medical disorder and has only been recognized recently. This type will rarely affect anyone before they hit their twenties or thirties. If a person gets this type of neurofibromatosis they will have painful tumors develop on their peripheral, cranial, or spinal nerves. It will not occur on the nerve that carries balance information and sound from your inner ear to your brain, which is referred to as the eight cranial nerve. These tumors are referred to as schwannomas.

Symptoms

Many people with neurofibromatosis will only have mild symptoms that can include:

  • Learning impairment
  • Blood vessel and heart complications
  • Hearing loss
  • Loss of vision
  • Severe pain
  • Severe disability because of the nerve compression caused by the tumors

What symptoms a person may have depends on the type of neurofibromatosis they are diagnosed with.

Neurofibromatosis Type 1

  • Brown spots on the skin that are light brown in color, flat, and approximately fifteen millimeters in adults and five millimeters in size in patients under puberty age. If you see more than six there is a strong possibility that you have NF1. They are either present at birth or show up during the first year of life. After they appear, they stabilize. These spots are not serious but may be a cosmetic concern.
  • Freckling in your groin or armpit area that appears by the age four or five.
  • Soft bumps under or on your skin that can appear anywhere in your body and are benign.
  • Lisch nodules which are small bumps on your iris of the eye. They can only be seen by a physician using a special instrument and they do not cause vision problems.
  • Bone deformities such as your lower leg are bowed or have a curved spine called scoliosis.
  • Learning disabilities such as thinking skills that are impaired
  • Head size is larger than average and brain volume is higher
  • Below average in height.
  • Optic glioma which is a tumor on your optic nerve
  • Hearing loss

Neurofibromatosis Type 2

  • Hearing loss that is gradual
  • Having ringing in your ears
  • Balance that is poor or having difficulty in balancing
  • Facial drop, weakness, or pain
  • Pain
  • Weakness and numbness in your legs and arms
  • Headaches

With this type you may also have some vision problems because of the development of cataracts or an abnormal growth on your retina, which occurs in children mostly.

Schwannomatosis

Chronic pain that can happen in any part of your body.

Causes

This medical disorder is caused by a genetic mutation or defects. It can occur at conception spontaneously or passed on by one of the parents. If a person is affected with this medical disorder with each pregnancy they have a fifty percent chance of passing it on. In families that have no previous history of this medical disorder the mutation can happen in the genetic material of the egg or sperm at the time of conception. Fifty percent of time neurofibromatosis is inherited. The mutations happen in different genes which is why there are three types of neurofibromatosis.

Neurofibromatosis Type 1

The mutated gene that causes this type can be found on chromosome 17. In a normal chromosome 17 this gene will produce a protein that is called neurofibromin. It helps to regulate your cell growth and it can be found in abundance in your nervous system tissue. When the gene mutates it will allow the cells to grown without any control because of the loss of neuofibromin.

Neurofibromatosis Type 2

The mutated gene that causes this type can be found on chromosome 22. The chromosome 22 produces merlin, which is also a protein. With a loss of this protein cells will also grow uncontrolled.

Schwannomatosis

The mutated gene that may be associated with this type can be found on chromosome 22 also and the mutation gene is called SMARCB1. There is a possibility that there may be other gene mutations that can cause this type. This type may be sporadic or inherited but it is not known for sure. This type has only been recently discovered.

Diagnosis

In order to diagnosis neurofibromatosis the physician has to do several baseline studies. These can include:

  • Vision screening and hearing tests
  • Electroencephalogram
  • X-rays of your bones
  • A CT of your head
  • Psychologic testing to see if there are any learning disabilities
  • MRI
  • Medical history
  • Family history
  • Physician may use a special lamp to look at your skin to see if there are any light colored spots.
  • If one or both parents have this medical disorder they may do genetic testing during a prenatal visit.

Treatment

At this time there are no specific treatments for neurofibromatosis and it is not curable. Physicians will usually treat the symptoms and monitor for any complications. People can benefit from early detection of treatable conditions associated with this medical disorder and genetic counseling. If a patient is asymptomatic, which means without any symptoms, they should be have a yearly exam. A person who is symptomatic, which means they have symptoms, may benefit from having the tumors removed surgically. There may be a team of doctors involved in a patient’s care with neurofibromatosis.

Neurofibromatosis Type 1

Treatment for this type may include:

  • For cosmetic reasons, have the neurofibromas removed
  • Getting intervention for learning disabilities in children
  • Treating any complications such as speech impairment, optic nerve tumors, seizures, delayed or early onset of puberty, scoliosis, and high blood pressure.
  • Evaluation of the child’s development and growth
  • Checking the skin for any changes in ones there or seeing if news one appear
  • Assessing a child’s progress and learning development in school
  • Having a complete eye exam

Neurofibromatosis Type 2

There is an auditory brainstem implant that can be done to transmit sound signals to the brain directly for those with hearing loss. It will let them hear speech and certain sounds. This treatment was approved by the US Food and Drug Administration in 2000.

Schwannomatosis

If a person has this type they may be given medication to help with the pain.

If the tumors do become cancerous they can be treated by:

  • Chemotherapy
  • Surgery to remove all or part of the tumors that are causing damage to your organs or compressing tissues nearby. In Schwannomatosis, complete removal of the tumors can help to ease the pain a lot.
  • Radiation

If the tumors become cancerous then a patient would be treated with standard cancer treatments.

Neurofibromatosis Pictures

Pictures of Neurofibromatosis…

neurofibromatosis

neurofibromatosis pictures

neurofibromatosis pictures 2

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