What is neurofibromatosis ?

Neurofibromatosis is a disorder caused due to mutation of certain genes which results in development of tumors on nerve cells due to defective growth of tissues in the nervous system. Any part of the nervous system such as brain, spinal cord, large and small nerves can be affected by tumors. Neurofibromatosis is generally detected during childhood or at the start of adulthood.

The condition is generally not life threatening as the tumors are benign and not malignant. However, neurofibromatosis can lead to cognitive and learning deficits, hearing loss and cardiovascular abnormalities, causing disruption of daily life. In certain cases, it may also lead to cancers.

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Treatment of neurofibromatosis is aimed at alleviating the complications and symptoms of the condition and facilitating the general growth and development of the affected individual. Surgery may be required to remove the tumors that cause serious health complications.

Symptoms of neurofibromatosis

Neurofibromatosis can be classified into three types. Each type has its own, specific symptoms.

Neurofibromatosis 1 (NF1) –

This type usually occurs in childhood and may show the following signs:

  • Cafe au lait spots: They are harmless, non-elevated, brown spots on the skin.
    Such spots may be congenital or appear in the first year after birth. They are common among most people, but the presence of a cluster of cafe au lait spots can indicate NF1. Such spots tend to stabilize in numbers after an early excessive growth.
  • Lisch nodules or microscopic lumps may be present in the iris of the eye and can be detected with the use of specific ocular instruments
  • Neurofibromas are soft bumps present on or underneath the skin. They affect the nerve tissues of the skin and a unitary growth may sometimes affect several such skin tissues
  • The bones may be deficit in bone minerals density. There may also be abnormal growth of bones that can result in several bone deformities such as an arched spine or curved lower limb
  • Children who have reached the age of 4 or 5 years may have an increased tendency to develop freckles in the armpits and groin region
  • NF1 can also result in mild to moderate intelligence deficits in affected children. This can eventually lead to visual-spatial irregularities, ADHD and other learning disabilities
  • Affected children have a larger head than normal
  • On rare occasions, NF1 may also result in stunted growth, leading to short height.

Neurofibromatosis 2 (NF2) –

The rate of NF2 incidence is lower than NF1. The condition causes the development of vestibular schwannomas or benign tumors in the ears. The tumors affect the nerve that carries the balance and audio signals from the ears to the brain. The signs of NF2 make their presence felt in late teens and early adulthood. Some of the symptoms are neurofibromatosis NF2 are:

  • Ringing sound in ears
  • Steady loss of hearing
  • Decrease in the sense of balance

On rare occasions, NF2 can also cause tumors in other nerves such as spinal, optic, cranial and peripheral nerves, leading to the below mentioned symptoms

  • Formation of cataracts
  • Legs and arms may become weak or numb

Schwannomatosis –

  • It is a recent discovery and very rare. This type of neurofibromatosis causes non-malignant tumors called schwannomas on the cranial, spinal and peripheral nerves. But it the nerves of the inner ear are not affected and hence there is no loss of balance or audio capability. It does not cause any impairment of cognition, but can result in severe and prolonged pain across all parts of the body

Causes of neurofibromatosis

The specific cause of neurofibromatosis is unknown, though research indicates genetic mutations as one of the causes. Such mutation can occur at the time of conception or may be inherited from parents.

Different forms of gene mutations result in the different types of neurofibromatosis. They are as follows:

  • NF1 is caused due to mutation of a gene in chromosome 17. This gene produces a protein called neurofibromin. This protein is responsible for cell growth regulation and is abundantly available in nervous system tissue. Mutation of the NF1 gene causes diminished production of the protein, leading to unregulated cell growth. This causes the tumors
  • NF2 is caused due to the mutation of gene present in chromosome 22 which results in loss of the protein, merlin. This results in uncontrolled cell growth.
  • Since the discovery of schwannomatosis is of recent nature, its specific cause is unknown. Mutation of SMARCB1/INI1 gene is thought to be the probable cause, but this still to be verified against multiple cases of the condition.

Neurofibromatosis treatment

Neurofibromatosis treatment is focused on monitoring and early treatment of complications and the various symptoms.

  • NF1 patients may require annual checkups to verify the presence of neurofibromas in the skin, evaluate bone deformities, detect eye abnormalities, and check for irregularities in growth and development. The doctor may also check for signs of cognitive impairment and hypertension.
  • Children require regular monitoring and immediate medical attention in case of sudden complications. Affected individuals who reach adulthood may not require regular checkups
  • Surgery for removal of tumors, back brace for spinal abnormalities and laser therapy for correction of skin defects may also be suggested by the physician.

Neurofibromatosis pictures

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