Understanding Neurofibroma

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Neurofibromas are benign tumors that appear as lumps on or under the skin. These tumors can appear anywhere on your body. The tumors can form on major or minor nerves. Neurofibromas are generally due to a genetic disorder. The tumors are usually benign. There are three types of neurofibromas:-

  • · Neurofibroma type 1 (NF1) is a disorder seen at birth or early childhood. Multiple light brown (care-eu-lit) spots pronounced around the groin and underarms. The tumors appear under the skin. Some patients have symptoms such as bone deformity or curvature of the spine (scoliosis). In rare cases, patients may develop tumors in the cranial nerve or spinal cord.
  • · Neurofibroma type 2 (NF2) is rare. It can appear in childhood or during adolescence. Symptoms of NF2 include benign tumors that affect both auditory nerves. People with NF2 often have hearing loss have balance problems.
  • · Schwannomatosis is a disorder that has similar characteristics of NF1 and NF2. The disorder is seen in adults in their 30s.


The symptoms of neurofibromas depend on the type.


Neurofibromas type 1

  • Neurofibromas look like lumps under the surface of the skin. They are occasionally painful or itch. Sometimes these tumors can grow on multiple nerves and can cause disfigurement.
  •  Harmless born spots (care-EU-lit) over the body. These spots are visible in early childhood.
  • Benign nodules or lumps on the iris. These cause no vision problems.
  • Abnormal bone growth and low bone density can cause deformities or curvature of the spine.
  • ·Tumors on the optic nerves
  •  Minor learning disabilities are common with NF1.
  •  Children with NF1 often have larger heads than usual.
  • Children with the disorder have below average height


Neurofibroma type 2


  • Neurofibroma NF2 is rare. It is characterized by tumors in both ears and can result in partial or total hearing loss.
  •  NF2 can lead to vision problems.
  • Benign tumors
  • Poor balance
  • Headaches
  • Weakness in extremities.
  • Pain


  • Chronic pain
  • Numbness or weakness in any part of the body.
  • Loss of muscle

It is advisable to see your physician if your child shows signs of neurofibroma.


Neurofibroma is due to genetic disorders passed by a parent or produced during conception. The gene involved depends on the type of neurofibroma.

  • Neurofibroma1 (NF1) is caused by chromosome 17, which produces a protein called neurofibromin. The mutated gene cannot neurofibromin leading to abnormal cell growth.


  • Neurofibroma 2 is caused by chromosome 22. This chromosome produces merlin that helps to suppress tumors. The mutated gene cannot produce merlin leading to tumors.
  • Schwannomatosis is due to mutation of SMARCB1 and LZTR1.



Your physician will diagnose your condition after a thorough physical examination. They will review your medical history. They may order imaging tests such as MRI or PET scans. A biopsy of a tumor may also be ordered.



Neurofibroma cannot be cured. The treatment plan involves monitoring and surgery when required. The doctor may monitor your tumor to see if it causing discomfort or it is growing. Surgery is recommended when the tumor is pressing on a nerve or growing around it. Clinical trials are available.




There are 10% of tumors may be malignant and require more aggressive treatment.


Patients with NF1 sometimes may have neurological problems like learning disorders. The tumors and excessive cafe eu lait may cause emotional distress. Some children may have abnormal bone growth or a curved spine. It may cause developmental delays and seizures. There is a higher risk of developing some types of cancer. Other complications such as high blood pressure.


Patients with NF2 have risks of becoming partially or completely deaf. The patients may have facial nerve problems. Higher risk of multiple cerebral and spinal tumors requiring surgical interventions.



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