Neurofibromatosis: Bringing Awareness to a Disguising Disease

Most of the lethal diseases often have alarming symptoms that help a patient proceed with treatment. However, some conditions make it challenging for doctors to make a conclusive diagnosis. Neurofibromatosis is one of the diseases that give medical professionals a difficult time. It affects mostly children and can turn cancerous if not given early treatment. The genetic disorder is not a common illness. Doctors often make wrong conclusions because of the rarity of neurofibromatosis, which could subject patients to the wrong treatment. Here is a rundown of neurofibromatosis to help bring awareness to the disease:

The Types of Neurofibromatosis

1. Neurofibromatosis Type 1

Neurofibromatosis Type 1 is a genetic disorder located on chromosome 17, which is responsible for neurofibromin. The protein helps regulate the growth of cells. When chromosome 17 suffers from a mutation, it loses its ability to produce neurofibromin. Your cells will grow at an uncontrollable rate. The disorder usually starts during childhood, but the symptoms are mostly present during birth.


  • Unexplainable brown spots on the skin
  • Small bumps on the iris of the eye and skin
  • A head larger than the average size
  • Freckle spots on groin and armpit areas
  • Abnormal bone growth
  • Slow learning rate

Possible Complications

  • Skeletal, neurological, and cardiovascular problems
  • Vision impairment
  • Respiratory problems
  • Development of Cancer

2. Neurofibromatosis Type 2

Neurofibromatosis Type 2 is a genetic disorder located on chromosome 22, which is responsible for the production of merlin. The protein plays a vital role in preventing the growth of tumors. If the chromosome has a mutation, your body will lose a good way to combat cancer. Neurofibromatosis Type 2 patients will notice benign and slow-growing tumors growing inside the ears, which can lead to permanent hearing loss. However, the condition can also appear in different parts of the body. The symptoms for NF2 becomes visible during the teen and early adult phases.


  • Poor balance
  • Constant ringing in both ears
  • Development of hearing loss
  • Headaches
  • Numbing arms and legs
  • Unexplainable pain
  • Facial drop
  • Vision problems

Possible Complications

  • Permanent hearing disability
  • Vision loss
  • Facial nerve damage
  • Brain and spinal tumors
  • Skin tumors

3. Schwannomatosis

Schwannomatosis is the rarest and most lethal form of neurofibromatosis. The condition stems from a mutation in the genes LZTR1 and SMARCB1. The genes also help the body prevent tumor growth. Schwannomatosis rarely affects the hearing nerves of a patient, but can develop tumors in the spinal, cranial, and peripheral nerves. The symptoms of schwannomatosis can become visible around the age of 20 to 30. You need to consult a doctor for treatment if the signs of the condition appear.


  • Chronic pain from different areas in the body
  • Muscle loss or twitch
  • Weakness and numbness of different body parts, depending on where the tumor grows

Possible Complications

  • Immense pain
  • High risk of cancer
  • Vision loss
  • Learning impairment


Sick girl in hospital

Neurofibromatosis is a rare disease because it is challenging to locate. There is no direct cure to the condition, but there are ways to help you control its symptoms and effects. For NF1 and NF2 patients, they will need to stay healthy while growing up. They will also need maintenance to manage their conditions. For schwannomatosis patients, pain can disrupt their daily routine. They will need to locate the source of the pain and have it removed through surgery. You may also contact foundations for neurofibromatosis patients to help you find other treatment methods.

Most of the symptoms are also possible in other diseases, making it challenging for people to diagnose neurofibromatosis. Promoting awareness of the disease will help people stop neurofibromatosis from developing.

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