Is Neurofibroma A Serious Condition & Can It Be Reversed?

Neurofibroma is a rare genetic disease that can occur to any individual. It is a benign tumor of the peripheral nerve, growing from fibroblasts – the main cells of the connective tissue. About 80% of patients with neurofibroma develop coffee-with-milk colored spots on different parts of their body as an early symptom.1

The disease is characterized by a tendency to epileptic seizures, mental retardation which is a high risk of spontaneous mutations. However, the malignant degeneration of the neurofibroma is rare1.

Is Neurofibroma A Serious Condition?

The problems associated with neurofibromas depend on the location of the tumor. The tumors are themselves harmless and, usually, there is no pain. But, they can create different problems.

They can produce general discomfort, numbness, infection, and itching, particularly when grazed by clothing. Moreover, neurofibromas that are surgically removed often grow back.

The condition may produce hypertension, which may be controlled by changes in lifestyle and symptomatic medications. Neurofibromas should be monitored carefully to prevent unwanted complications. Regular checkups by doctors are suggested.

If the neurofibromas grow in your optic nerve, it may affect your eyesight. In this case, the tumors are usually removed surgically.

Acoustic Neuroma2

This is a condition where neurofibromas develop in the brain and compress the acoustic nerves causing hearing deficiency and other complications. Acoustic neuroma is a primary tumor and it does not form secondary tumors (metastases). It does not usually transform into cancer and it is not contagious. The condition is also not heritable and usually grows very slowly.

However, these features are the only conditionally comforting and if unrecognized and untreated, sooner or later it will lead to an annoying situation, partial loss of hearing and later life-threatening symptoms. Along with impaired hearing, it affects the sense of balance and can cause tinnitus (continuous buzzing sound in the ear).

Can Neurofibromas Be Reversed?

In general, neurofibromas may seem harmless, causing minor discomfort and aesthetic issues. The progression of the tumors is also slow and they are non-cancerous. But, the tumor can grow on any part of the body and compress the nerves as well as neighboring tissues. This may lead to complications and serious illness.

As a genetic disorder, it cannot be reversed or cured, but early intervention can control the symptoms and offer relief. Overall, a neurofibroma is not a fatal disease, although it may cause life-threatening complications in some individuals.

Type 1 And Type 2 Neurofibromatosis3,4

Neurofibromas may result in neurofibromatosis type 1 and type 2. It is characterized by a wide range of symptoms which are not limited to specific parts of the body. In both neurofibromatosis type 1 and type 2, coffee-with-milk colored spots appear on the skin.

In addition, changes in the eyes are common: nodules in the iris may form indicating tumors of the eye. Deficits in sensory perception, especially in hearing, are another feature of neurofibromatosis. The formation of tumors can partially impair the functioning of the nervous system.

One of the hallmarks of type 1 neurofibromatosis is the appearance of the “bell-button phenomenon”. In this case, the neurofibromas form a soft knot which can be impressed with the finger as if there were a hole in it.

In neurofibromatosis type 2, the tumors are also often seen and felt through the skin. Moreover, changes in bone structure can also occur, such as severe deformations of the spine. The neurofibromas in type 2 neurofibromatosis can also form on other nerves of the central nervous system. Another possible symptom of type 2 disease is the opacity of the eye lens.

There is no effective therapy option for neurofibromatosis. Its treatment is limited to the surgical removal of tumors and the treatment of symptoms as they appear. In particular, the tumors of the auditory nerves can be removed at an early stage with some success.

For every type of complications related to neurofibromas, early diagnosis and immediate start of treatment show the best results. This can significantly improve the quality of life of the person concerned. The patients should be provided ample knowledge of the condition and all the possible support to minimize emotional stress as far as possible.

References:  

  1. Ferner RE, O’Doherty MJ. Neurofibroma and schwannoma. Current opinion in neurology. 2002;15(6):679-684.
  2. Gal TJ, Shinn J, Huang B. Current epidemiology and management trends in acoustic neuroma. Otolaryngology—Head and Neck Surgery. 2010;142(5):677-681.
  3. Sabatini C, Milani D, Menni F, Tadini G, Esposito S. Treatment of neurofibromatosis type 1. Current treatment options in neurology. 2015;17(6):26.
  4. Blakeley JO, Evans DG, Adler J, et al. Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. American journal of medical genetics Part A. 2012;158(1):24-41.

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