Description

Schwannomatosis is a condition that results in slow-growing tumors in the nervous tissue. The tumors can grow on the nerves of the ears, the brain, the spine, and the eyes. It can also grow in the peripheral nerves, which are nerves located outside the brain and spinal cord. Schwannomatosis is a rare. It is usually diagnosed in early adulthood.

There are three types of schwannomatosis. Each type is caused by an altered gene.

In NF2-related schwannomatosis (NF2), the growth of tumors in both ears, and can cause hearing loss. The altered gene that causes this type are sometimes happens of a father. The NF2-related schwannomatosis was previously known as neurofibromatosis type 2 (NF2).

The other two types of schwannomatosis are SMARCB1-related schwannomatosis and LZTR1-related schwannomatosis. The alteration of the genes that cause these types are generally not transmitted through families.

The tumors caused by schwannomatosis are usually not cancerous. Symptoms may include headaches, hearing loss, problems with balance, and pain. The treatment focuses on managing the symptoms.

Symptoms

Schwannomatosis the symptoms depend on the type.

The NF2-related schwannomatosis

The symptoms of NF2-related schwannomatosis (NF2) are usually the result of slow-growing tumors in both ears, known as acoustic neuromas or schwannomas vestibular. The tumors are benign, which means non-cancerous.

The growth of tumors in the nerve that carries sound and balance information from the inner ear to the brain. These tumors can cause hearing loss.

The symptoms tend to appear during late adolescence and early adult years, and can vary. Symptoms may include:

  • Gradual hearing loss.
  • Ringing in the ears.
  • The lack of balance.
  • Headaches.

Sometimes NF2 may lead to the growth of tumors in other nerves, including the brain, spine, and the eyes. It can also grow in the peripheral nerves, which lie outside of the brain and the spinal cord. People who have NF2 can also develop other benign tumors.

The symptoms of these tumors may include:

  • Numbness and weakness in the arms or legs.
  • Pain.
  • The lack of balance.
  • Facial of the drop.
  • Changes in vision or cataracts.
  • Seizures.
  • Headaches.

SMARCB1 - and LZTR1-related schwannomatosis

These two types of schwannomatosis usually affects people after the age of 20 years. The symptoms usually appear between the ages of 25 and 30 years.

SMARCB1 - and LZTR1-related schwannomatosis can cause the growth of tumors in the nerves in the brain, the spine, and the eyes. The tumors can also grow in the peripheral nerves located outside the brain and spinal cord.

The symptoms of SMARCB1 - and LZTR1-related schwannomatosis include:

  • The pain of long duration, which can occur in any part of the body, and can be disabling.
  • Numbness or weakness in various parts of the body.
  • The loss of muscle mass, known as atrophy.

These types of schwannomatosis can also cause the growth of tumors in the ear. But this happens rarely, and the tumors usually grow in a single ear. This differs from the NF2, which causes the growth of tumors in both ears. For this reason, people with SMARCB1 - and LZTR1-related schwannomatosis do not have the same loss of the hearing of the people who have NF2.

When to see a doctor

Consult a health care professional if you have symptoms of schwannomatosis. Although there is no cure, the complications can be treated.

Causes

Schwannomatosis is caused by an altered gene. The specific genes involved depend on the type:

  • The NF2-related schwannomatosis (NF2). The NF2 gene produces a protein called merlin, also called schwannomin, that suppresses tumors. An alteration of a gene that causes a loss of merlin, which leads to the growth of the cell that is not controlled.
  • SMARCB1 - and LZTR1-related schwannomatosis. So far, two genes that are known to cause these types of schwannomatosis. The changes of the genes SMARCB1 and LZTR1, tumor suppressors, are associated with these conditions.

Risk factors

The gene that causes the schwannomatosis sometimes happens of a father. The risk of inheriting the gene varies according to the type of schwannomatosis.

About half of the people who have NF2-related schwannomatosis (NF2), which received an altered gene from a parent that caused the disease. NF2 is an autosomal dominant pattern of inheritance. This means that any child of a parent who is affected by the disease has a 50% chance of having the gene change. People who have NF2 and whose family members are not affected are likely to have a new change in the gene.

In SMARCB1 - and LZTR1-related schwannomatosis, the disease is least likely to be transmitted from the parents. The researchers estimate that the risk of inheriting SMARCB1 - and LZTR1-related schwannomatosis of an affected parent is approximately 15%.

Complications

Complications can occur in schwannomatosis, and they depend on the type of the person.

The NF2-related schwannomatosis complications

The NF2-related schwannomatosis (NF2) complications may include:

  • Partial or total loss of hearing.
  • Facial nerve damage.
  • Changes in vision.
  • Small benign tumors of the skin, known as the skin of the schwannomas.
  • Weakness or numbness in the legs or arms.
  • Have many benign tumors of the brain or spinal cord tumors, known as meningiomas. These require frequent surgeries.

SMARCB1 - and LZTR1-related schwannomatosis complications

The pain caused by this type of schwannomatosis can be weakened. People with this type may need surgery or treatment by a pain specialist.

Diagnosis

For the diagnosis of schwannomatosis, a professional of the health begins with a review of your personal and family medical history and a physical examination. You may also need other tests to diagnose NF2-related schwannomatosis (NF2) or SMARCB1 - and LZTR1-related schwannomatosis.

Other tests include:

  • Examination of the eyes. An eye exam can reveal cataracts, and vision loss.
  • Hearing and balance tests. These include a test that measures the hearing called a hearing test and a test that measures the balance by recording eye movements, known as electronystagmography. Another test measures the electrical messages that carry the sound from the inner ear to the brain, known as the brain stem auditory evoked response.
  • Imaging tests. The X-ray, computed tomography or magnetic resonance imaging can help to identify the changes in the bones, tumors in the brain or in the spinal cord, and very small tumors. Imaging tests are also used to monitor the condition after a diagnosis.
  • The genetic testing. Genetic testing does not always identify the NF2 or SMARCB1 - and LZTR1-related schwannomatosis because other genes that are not known they can be involved with the condition. However, some people choose to genetic testing before having children.

Treatment

The treatment for schwannomatosis may include surgery or treatment for the pain. You may need regular screenings and tests to monitor the growth of the tumor. There is No cure for schwannomatosis.

Surgery and other procedures

Surgery or other procedures may be needed to treat severe symptoms or complications.

  • The surgery to remove the tumors. People who have NF2-related schwannomatosis (NF2) and have a hearing loss, brain stem compression, or tumor growth, may need surgery to remove acoustic neuromas. The complete elimination of the tumors can relieve the pain.
  • Stereotactic radiosurgery. This procedure allows the radiation to the tumor without the need to cut the body. Stereotactic radiosurgery may be an option to remove acoustic neuromas associated with NF2, while the preservation of hearing.
  • Auditory brain stem implants and cochlear implants. These devices can help to improve your hearing if you have NF2 and hearing loss.

The treatment of cancer

If the tumors become cancerous, are treated with the standard anti-cancer therapies, such as surgery, chemotherapy and radiotherapy. The early diagnosis and treatment are the most important factors for a good outcome.

Pain medications

Pain management is an important part of treatment for SMARCB1 - and LZTR1-related schwannomatosis. Your health care professional may recommend:

  • Medications for nerve pain such as gabapentin (Neurontin, Gralise, Horizant) or pregabalin (Lyrica).
  • Tricyclic antidepressants such as amitriptyline.
  • The serotonin and norepinephrine, such as reuptake inhibitors duloxetine (Cymbalta).
  • Epileptic medicines such as topiramate (Topamax, Qudexy XR, others) or carbamazepine (Carbatrol, Tegretol, others).

Researchers are studying drugs that can reduce the non-cancerous tumors that grow in the hearing and balance nerves in the ears.

Coping and support

Learning has schwannomatosis can cause a wide range of emotions. Join a support group that meets in person or online can help you to deal with the emotions that you are feeling. Also reach out to family members and friends for support.

Preparing for your appointment

You may be referred to a doctor who specializes in the brain and nervous system conditions, known as a neurologist.

Here's some information to help you prepare for your appointment.

What you can do

When you make the appointment, ask if there is something that you need to do in advance, such as fasting before a specific test. Before your appointment:

  • Write down a list of concerns, making a note of when you first noticed them.
  • A complete medical and family history with you .
  • Write down key personal information, including any major stresses or recent life changes.
  • Make a list of all medications, vitamins or supplements you are taking.
  • Write questions to ask their health professional.

For schwannomatosis, basic questions to ask include:

  • What type of schwannomatosis I have?
  • What tests do I need?
  • What treatments are available?
  • How should the condition be monitored for changes?

Do not hesitate to ask other questions.

What to expect from your doctor

Your healthcare provider is likely to ask several questions, including:

  • When did you first notice the symptoms?
  • The symptoms changed over time?
  • There is a family history of schwannomatosis?
Symptoms and treatment of Schwannomatosis