Neurofibromatosis: Symptoms, Diagnosis, and Treatment

Neurofibromatosis is a condition in which the tumors grow in the nervous system, it is of generally three types- neurofibromatosis type 1(NF 1), neurofibromatosis type 2(NF 2) and schwannomatosis. Different types of symptoms are present in neurofibromatosis according to its types.neurofibromatosis

In NF 1 the symptoms are light brown spots on the skin, freckles in the armpit and groin, small bumps present in the nerves and scoliosis. The symptoms that are present in NF 2 are hearing loss, cataract, the problem in balancing, muscle weakness and wasting but the tumors are noncancerous.

The cause of the disease is genetics, may be caused by mutation or inheritance from the parents. In the neurofibromatosis type, 1 tumor is present on the peripheral system, while in NF 2 and schwannomatosis tumors of Schwann cell are more common. Diagnosis of disease is based on the genetic testing. There is no permanent cure for the disease but surgery can be a possible option in curing the disease. Radiation and chemotherapy may be other options for treatment of the disease.

Sign and symptoms 

  • Neurofibromatosis (NF 1) in the early life can cause learning and behavior problems.
  • In the 60% of the children in this disease have academic and developmental problems in school.
  • Light brown spots all over the body, generally they are 6 in numbers.
  • At least two neurofibromas.
  • Abnormalities in the spine like scoliosis, lordosis, and kyphosis.


It is an Autosomal dominant disorder, that means only one copy of the affected gene is enough to cause the disease either it is from the mother or from the father, so if one parent has the neurofibromatosis there is 50% chance of having the disease to the first baby.

There are three types of neurofibromatosis:-

  • Neurofibromatosis type 1 – In this type of the disease the tumor grows in the nervous tissues that may be malignant or benign and they cause serious damage in the peripheral nervous system by compressing the nerves.
  • Neurofibromatosis type 2 – In this type of neurofibromatosis growth of tumors occurs in the vestibulocochlear nerve leads to hearing loss.
  • Schwannomatosis – In this, there is generally the development of painful schwannomas on the spinal and peripheral nerves.


There are many laboratory and instrumental methods by which we can diagnose the disease:-

  • Diagnosis with the help of radiography.
  • Taking EEG of the brain, with the help of this method doctor studies the abnormal frequency of brain signal that is present in neurofibromatosis.
  • Magnetic resonance imaging and computerized tomography.
  • Gene testing
  • Histological studies and slit lamp examination.

Treatment options 

  • By surgery – It is the most useful method for the treatment of neurofibromatosis with the help of which doctor removes the tumors present at the peripheral system of nerves.
  • Chemotherapy – Another method in which with the help of radiations tumors are treated.
  • Radiotherapy – This is the widely used method but it is contraindicated in the children.
  • Treatment of painful scars by using painkillers drugs.
  • Physical therapy.

Leave a Reply

Your email address will not be published. Required fields are marked *