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Overview

Neurofibromatosis is the genetic disorder that involves the development of tumors on the nerve tissue. It can form anywhere in the nervous system such as the nerves, spinal cord, and brain. The tumors can be either noncancerous (benign) or cancerous (malignant). The disease is generally diagnosed in early adulthood or childhood. The complications of the disease include learning impairment, loss of hearing, problems in blood vessel and heart, severe pain and loss of vision.

Neurofibromatosis Symptoms

There are three kinds of neurofibromatosis and each has its own symptoms as follows:

#1.Neurofibromatosis 1 (NF 1): Neurofibromatosis 1 generally appears in the childhood or right after birth and symptoms are present at birth or by the age of 10 years.

  • Light, flat brown spots called ‘café au lait’ spots on the skin.
  • Freckling in groin or armpits region
  • Tiny bumps are known as ‘Lisch nodules’ in the iris of the eyes.
  • Soft bumps are known as ‘neurofibromas’ under the skin.’
  • Bone deformities
  • A tumor on optic nerve known as optic glioma
  • Learning disabilities

#2.Neurofibromatosis 2 (NF 2): Neurofibromatosis 2 is less common compared to NF 1. NF 2 develops from the slow-growing, benign tumors known as the ‘acoustic neuromas’ in both the ears. NF 2 is called ‘vestibular schwannomas’ and grows on nerves that carry balance information and sound from the inner ear to brain. Symptoms appear in late teen or early adulthood and include the following:

  • A gradual loss in hearing
  • Ringing sound in ears
  • Poor balance
  • Headaches

#3. Schwannomas: NF2 leads to the development of the schwannomas and the symptoms include the following:

  • Weakness and numbness in the legs or arms
  • Difficulty in balancing
  • Pain
  • The problem in vision and development of cataracts

Schwannomatosis is a rare kind of neurofibromatosis that affects people in their 20s. In this disease tumors develop in the peripheral nerves, spinal and cranial nerves and the symptoms include:

  • Weakness or numbness in the different parts of the body
  • Muscle loss

Neurofibromatosis Causes

Neurofibromatosis is brought about by the genetic defects or mutations that occur during conception spontaneously. The involvement of genes is based on the kind of neurofibromatosis.

    • NF1: The gene of NF1 is situated on the chromosome 17 and produces the neurofibromin protein which helps in the regulation of cell growth.
    • NF2: The gene of NF2 is located on the chromosome 22 and produces the merlin protein. The ‘mutated gene’ brings about the loss of the merlin protein and uncontrolled growth of the cell.
  • Schwannomatosis: Two genes bring about the condition of schwannomatosis.

Legius Syndrome and Neurofibromatosis

Legius Syndrome is a disorder similar to Neurofibromatosis 1. The disorder is characterized by skin problems such as café-au-lait spots, freckles, and mild learning problems.

Diagnosis of Neurofibromatosis

At mfine get in touch with the neurofibromatosis specialist, who would confirm the diagnosis of NF 1 by carrying out a physical examination.

Understanding Neurofibromatosis

Neurofibromatosis results due to a genetic mutation in specific genes. The offspring inherit the gene from their parents but the rest occur during the early phase of development.

Neurofibromatosis Treatment

The treatment for neurofibromatosis is surgery. Get in touch with adept general surgeons for removing the acoustic neuromas which cause the problem of hearing loss.

At mfine, find neurofibromatosis doctors near me and get the best of treatment.

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