Neurofibromatosis

Also called: Recklinghausen's disease, von Recklinghausen's disease

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.

There are three types of neurofibromatosis:

  • Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth.
  • Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years.
  • Schwannomatosis causes intense pain. It is the rarest type.

Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines.

NIH: National Institute of Neurological Disorders and Stroke

Symptoms of Neurofibromatosis

The following features are indicative of Neurofibromatosis:
  • flat, light brown spots on the skin
  • freckling in the armpits or groin area
  • soft bumps on or under the skin
  • bone deformities
  • optic glioma
  • short stature
  • gradual hearing loss
  • ringing in the ears
  • poor balance
  • headaches
  • numbness and weakness in the arms or legs
  • pain
  • balance difficulties
  • facial drop
It is possible that Neurofibromatosis shows no physical symptoms and still is present in a patient.

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Common Causes of Neurofibromatosis

The following are the most common causes of Neurofibromatosis:
  • genetic mutation

Risk Factors for Neurofibromatosis

The following factors may increase the likelihood of Neurofibromatosis:
  • family history of the Neurofibromatosis

Prevention of Neurofibromatosis

No, it is not possible to prevent Neurofibromatosis.
  • genetic factors

Occurrence of Neurofibromatosis

Number of Cases

The following are the number of Neurofibromatosis cases seen each year worldwide:
  • Not common between 50K - 500K cases

Common Age Group

Neurofibromatosis most commonly occurs in the following age group:
  • Aged between 1-15 years

Common Gender

Neurofibromatosis can occur in any gender.

Lab Tests and Procedures for Diagnosis of Neurofibromatosis

The following lab tests and procedures are used to detect Neurofibromatosis:
  • Physical examination: To check the signs and symptoms of disease
  • Eye exam: To detect Lisch nodules and cataracts
  • Ear exam: To assess hearing and balance problems in people with NF2
  • Imaging tests: To identify the bone abnormalities, tumors in the brain or spinal cord and very small tumors by taking images
  • Genetic tests: To identify NF1 and NF2 presence

Doctor for Diagnosis of Neurofibromatosis

Patients should visit the following specialists if they have symptoms of Neurofibromatosis:
  • Dermatologist
  • Neurologist
  • Neurosurgeon
  • Oncologist
  • Ophthalmologist
  • Orthopedic Surgeon
  • Otorhinolaryngologist
  • Pediatrician
  • Radiation oncologist
  • Radiologist

Complications of Neurofibromatosis if untreated

Yes, Neurofibromatosis causes complications if it is not treated. Below is the list of complications and problems that may arise if Neurofibromatosis is left untreated:
  • hearing loss
  • learning impairment
  • cardiovascular problems
  • loss of vision
  • neurological problems
  • skeletal problems
  • benign adrenal gland tumor
  • facial nerve damage
  • vision problems
  • small benign skin tumors

Procedures for Treatment of Neurofibromatosis

The following procedures are used to treat Neurofibromatosis:
  • Surgery: Removes all or part of tumors
  • Stereotactic radiosurgery: Remove acoustic neuromas in case of NF2
  • Auditory brainstem implants and cochlear implants: Improves the hearing if you have NF2 and hearing loss

Time for Treatment of Neurofibromatosis

While time-period of treatment for each patient may vary, below is the typical time-period for Neurofibromatosis to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Neurofibromatosis.

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