How Common Is Neurofibroma or Is It A Rare Disease?

Neurofibroma refers to a type of peripheral nerve tumors, that arises in the nerves anywhere in the body.⁽¹⁾

Among the various peripheral nerve tumors, neurofibroma is quite common. The incidence of neurofibromatosis is approximately one in every 3000. Also, it is not known to be affecting any particular ethnic groups or races, nor can it be seen affecting a particular gender. The incidence, though, is slightly higher in children when compared to adults. Also, about fifty percent of all cases are caused due to some new mutations.

The exact cause of neurofibroma is not known. A presence of multiple neurofibromas, however, is associated with a genetic condition known as neurofibromatosis. The causes of neurofibromatosis are genetic defects or mutations that are sent on by a parent to their children or occur impulsively at the time of conception. The genes that are involved in the mutation depend upon the type of neurofibromatosis.⁽¹⁾

• In this condition, the gene is present on chromosome 17.
• This gene produces a protein known as neurofibromin, which in turn, is responsible for regulating cell growth.
• However, when this gene is mutated, there is a loss of neurofibromin, and the cells begin to grow uncontrollably⁽¹⁾

• In this condition, the gene is present on chromosome 22.
• This gene produces a protein known as merlin, which is responsible for suppressing tumors.
• When there is a loss of merlin due to gene mutations, the cells grow uncontrollably and form tumors.⁽¹⁾

• This condition is related to mutations in two genes-SMARCB1 and LZTR1.
• These genes are responsible for suppressing tumors.
• However, the mutations in these genes do not let this happen and tumors are formed.⁽¹⁾

Neurofibromas may not produce any signs and symptoms at times. And the only concern usually is physical appearance. However, when they do, the complications of neurofibromatosis generally relate to nerve tissue distortion or pressure on internal structures, like-

• Difficulties related to learning and thinking are the commonest of all the neurological difficulties.
• Epilepsy and accumulation of excess fluid in the brain are some of the uncommon complications related to neurofibromatosis⁽¹⁾

• Visible signs like many neurofibromas on the face or large neurofibromas can cause anxiety, stress, and depression.
• This may happen even though the neurofibromas are not medically serious or dangerous.⁽¹⁾

• Neurofibromatosis 1 may be associated with decreased bone density
• It is also linked to spinal curvature, also known as scoliosis.
• It may lead to bowing of legs or fractures that may not at all heal⁽¹⁾

If the optic nerve is involved in neurofibromatosis, also known as optic glioma, this can significantly affect vision⁽¹⁾

• During puberty, there are many hormonal changes going on in the body. these changes may increase the neurofibromas.
• There may also be problems related to pregnancy, though not so common. However, careful monitoring by an obstetrician is required⁽¹⁾

• There is an increased risk of blood vessel abnormalities and high blood pressure in this condition.
• There may also be breathing difficulties, however, it is rare.⁽¹⁾

• Neurofibromas may be cancerous. There may also be an increased risk of other cancers like breast cancer, leukemia, brain tumors etc.⁽¹⁾
• There may be deafness, partial or total
• The facial nerve may get damaged
• There may be vision problems
• Small benign skin tumor known as schwannomas may form
• There may be a weakness or numbing feeling especially in the extremities
• There may be the development of meningiomas, which may require frequent surgeries
• Schwannomas may cause a debilitating pain⁽¹⁾

Neurofibroma is not a very common occurrence. However, among all the peripheral nerve tumors, neurofibroma is the commonest type.

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Also Read:

• Neurofibromatosis: Causes, Symptoms, Diagnosis, Treatment