Neurofibroma: Symptoms, Diagnosis, Treatment

Overview

A neurofibroma is a type of nerve sheath tumor, which is a benign tumor of peripheral nerves. In general, neurofibromas can be divided into two main types: Neurofibromatosis I and Neurofibromatosis II. As a birth defect, neurofibromas are considered to be linked with genetic disorders. Although the majority of the tumors are benign, neurofibromas may become malignant in some cases. Or, when the tumors compress nearby structures, serious symptoms such as pain, vision loss, and hearing loss may also occur. People with the disease may experience various symptoms. For some, the symptoms may be mild and even hard to notice. But for others, the symptoms may be severe and cause a series of complications.

At present, neurofibromas are not curable. But careful treatment can help to reduce the symptoms and have the situation under control. Patients with neurofibromas usually need to have regular checks in the hospital and hear advice from a team of doctors from different medical departments so that the treatment effects can be maximized.

In the United States, neurofibroma affects less than 200,000 people in the general population. As the most common form of neurofibroma, Neurofibromatosis I occurs in 1 in 3,000 to 4,000 babies. For Neurofibromatosis II, the less common condition happens in 1 in 25,000 to 40,000 babies.

Causes

Neurofibromas are often considered to be caused by genetic disorder. That is, the disease is often passed from a parent to a child, which accounts for 50% of all cases. According to studies, the tumors are affected by a single gene. The gene that influences Neurofibromatosis I is located on chromosome number 17. The gene that causes Neurofibromatosis II is a similar gene on chromosome number 22.

In the other half of cases, these genes have a sporadic mutation in a sperm or egg cell. These patients are called sporadic cases, who are more likely to have only one tumor, instead of multiple tumors.

Symptoms

When the tumor begins to compress surrounding structures, symptoms usually arise. But as a slow-growing tumor, a neurofibroma may show symptoms gradually. Also, according to the location, size, and severity of the tumors, people with the condition may go through different signs and symptoms too.

Common signs and symptoms of neurofibromas may include the following:

  • Pain in the tumor site
  • Numbness
  • Tingling
  • Clumsiness in the hands
  • Trouble walking
  • Bowel and bladder dysfunction
  • Scoliosis
  • Unusual skin pigmentation
  • Bumps under the skin
  • Learning disabilities
  • Behavioral changes
  • Vision loss
  • Hearing loss

Diagnosis

When a person goes to the hospital and checks if he or she has neurofibromas, the doctor usually conducts a physical examination first. The doctor may ask for a complete medical history and check his or her family members’ conditions because neurofibromas are often inherited.

Then, to confirm a diagnosis, the doctor may order some imaging tests, such as:

  • CT and MRI scans. CT scan can produce detailed images of bones and soft tissues while an MRI scan can provide detailed images of organs and tissues like the brain and spinal cord. The results can help the doctor to decide where the tumors are and what tissues are affected.
  • PET scan. This test can help the doctor to diagnose if the tumor is a malignant one or a benign one.
  • Biopsy. By taking a tissue sample of the tumor to the lab, the doctor can examine it under a microscope. This test can tell for sure if the tumor is a neurofibroma.

Treatment

Although neurofibromas cannot be cured at present, medical treatment can help to reduce the symptoms. Depending on the size, location, and symptoms of the tumors, the doctor usually chooses different approaches in treating the patients.

Regular monitoring.

If the tumor is small and does not cause any pressure on a nearby structure, the doctor may advise the patients to wait and see first. Yearly MRI scans will help the doctor to follow up on the situation and look for signs that the tumor is growing.

Surgery.

If the tumors cause neurological problems and grow at a fairly rapid rate, the doctor may recommend the patient to surgically remove the tumors. Usually, before surgery, radiation therapy and chemotherapy may be included in the treatment plan. These two therapies can help to shrink the tumors so that the doctor can be in a more convenient place to have the tumors removed. According to where the tumors are, the doctor may perform different types of surgical procedures.

Rehabilitation.

After the surgical procedure, it is necessary to undergo physical rehabilitation. Professional physical therapists and occupational therapists can customize different rehabilitation programs for the patients. Doing proper exercises can prevent stiffness and help the patient to recover faster.

Clinical trials.

There is no cure right now for neurofibromas, but there are studies going on and clinal trail testing available. But this approach does carry a higher risk because clinical trials may cause other unknown complications.

Keywords: neurofibroma.

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.