Neurofibromatosis: Symptoms, Diagnosis, Treatment


Neurofibromatosis is a genetic disorder of the peripheral nervous system. In general, the disorder has three subtypes: neurofibromatosis I (NF1) and neurofibromatosis II (NF2) and schwannomatosis. Basically, the disorder affects the growth and development of nerve cell tissue. The disease is often diagnosed in childhood or early adulthood. While some people may have few symptoms, others may show severe neurological problems such as hearing loss, learning impairment and severe pain. But fortunately, the rumors are usually benign. Only 3% to 5% neurofibromatosis change to be cancerous.

According to statistics, NF1 occurs in around 1 in every 3,500 births while NF2 and schwannomatosis both occur in about 1 in every 40,000 births. If the parent of a child is with NF1or NF2, the kid has a 50% chance of inheriting the abnormal gene and developing the disease. Moreover, it is estimated that nearly one-third of people with neurofibromatosis do not show noticeable symptoms.


Neurofibromatosis I

NF1 is also called von Recklinghausen NF or peripheral NF. This type of neurofibromatosis usually shows symptoms at birth or during early childhood. If a kid is with NF1, multiple light brown spots can usually be found in his or her groin and underarms. Alongside that, a kid with NF1 is likely to have enlargement and deformity of bones and curvature of the spine, as well as learning disabilities.

Neurofibromatosis II

NF2 is much less common and it may appear during childhood, adolescence or early adulthood. Typically, a patient is with multiple tumors on the cranial and spinal nerves.


This type of neurofibromatosis shares many similar features with NF1 and NF2. But according to current researches and studies, schwannomatosis is a distinct genetic disease.


Since neurofibromatosis is a genetic disorder, the condition occurs because of genetic defects. People with neurofibromatosis either inherit the abnormal gene from their family or undergo a genetic mutation at conception.


The NF1 gene is located on chromosome 17. The gene called neurofibromin is in charge of producing a protein that suppresses tumor. When the gene mutates, the loss of neurofibromin causes cells to grow uncontrolled.


The NF2 gene is located on chromosome 22. The gene is called Merlin, which also plays a role in suppressing the tumor. People with NF2 may inherit the gene from their parents or may experience a spontaneous mutation that occurs for unknown reasons.


At present, the exact cause of schwannomatosis remains a mystery. But according to studies, 85% of cases have been caused by spontaneous mutations.


The three types of neurofibromatosis may show different symptoms.

NF1 Symptoms

  • Multiple freckles in the armpit or groin area
  • Lisch nodules
  • Vision loss
  • Bone deformities
  • Light tan spots on the skin
  • Optic glioma
  • Learning disabilities
  • Enlarged head
  • Short stature

NF2 Symptoms

  • Hearing loss
  • Ringing in the ears
  • Balance problems
  • Headaches
  • Numbness and weakness in the arms or legs
  • Pain
  • Vision loss
  • Weakness of the facial muscles
  • Dizziness
  • Trouble walking

Schwannomatosis Symptoms

  • Pain
  • Numbness and tingling of the fingers or toes
  • Weakness in the fingers and toes
  • Loss of muscle


To diagnose if you are with neurofibromatosis and tell exactly which type of neurofibromatosis you have can take a lot of efforts.

As a start, the doctor may need to check the symptoms and review the complete medical history of you and your family members. Then the doctor is likely to conduct a physical examination. A special lamp may be used to check if there are spots on the skin. Then, the doctor may order eye examination, hearing and balance examinations to detect Lisch nodules, cataracts, and other problems.

To confirm a diagnosis, it is necessary to have imaging tests. X-rays, CT or MRI scans can be helpful for the doctor to identify bone abnormalities, tumors in the brain or spinal cord and other small tumors. What’s more, since neurofibromatosis is related strongly to genes, genetic tests may also be ordered. Thus, the doctor can identify which type of neurofibromatosis the patient is having.


Right now, neurofibromatosis can’t be cured. But proper treatment can help to manage the symptoms. Early diagnosis is very beneficial to treat the disease. According to different situations, the doctor may take different treatment approaches.


If a person is with NF1, the doctor is likely to recommend a wait-and-see approach. The patient needs to have regular checkups so as to closely monitor the situation. Any changes shall be dealt with a timely response.


when there appear severe symptoms and other complications, the doctor may advise a patient with neurofibromatosis to surgically remove the tumor. In doing so, people with NF2 and schwannomatosis can ease their symptoms such as hearing loss, compression, and pain.

Stereotactic radiosurgery

In some cases, radiation therapy can reduce tumor growths. By targeting radiation to the tumor, stereotactic radiosurgery may be of help to preserve the patient’s hearing.


Since the tumors may cause pain, pain relievers may be prescribed, especially for people with schwannomatosis. Gabapentin or pregabalin may be prescribed to ease the nerve pain.

Since there is no curable treatment for neurofibromatosis right now, people with the disease should discuss the treatment plan with the doctor in detail so as to maximize the treatment effects.

Keywords: neurofibromatosis; NF1; NF2; Schwannomatosis.

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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.