How Is Neurofibroma Diagnosed & What Is The Best Medicine For It?

A neurofibroma is mostly a benign tumor that can occur as part of the genetic disorder neurofibromatosis. The tumors affect the nerve tissue and must be removed if impaired1.

It is a genetic disorder that triggers cell growth within the nervous system, resulting in the development of tumors. These tumors can occur anywhere in the body, including the brain and spine.

The predisposition to the development of neurofibromas is often discovered as early as childhood or young adulthood. The tumors are usually benign, but cancer can develop in exceptional cases. People with neurofibroma generally suffer only minor symptoms. However, the effects on the nerves can lead to hearing loss, learning difficulties, coronary heart disease, vision loss, and serious nerve pain1. The treatment of neurofibromas focuses on the prevention of malignant tumors and the treatment of complications as they occur. Large tumors and tumors that restrict nerve activity are surgically removed in some cases.

How Is Neurofibroma Diagnosed?

The doctor will make the diagnosis on the basis of personal medical history, family history, and symptoms. Neurofibromas arising as a result of NF1 (neurofibromatosis type 1) disease is first detected by physical examination.

As neurofibromas are more prevalent in certain parts of the body, specialists may want to examine specific regions separately. An eye exam looks for characteristic errors in the iris that indicate a neurofibroma. An ear specialist will test your hearing and sense of balance to pinpoint any effects on this nerve branch.

If it is suspected that the neurofibroma affects bones, joints, or the spine, imaging techniques such as X-ray, CT scan, MRI scan, and PET may be considered. A DNA study is also available for all versions of the disease and may be performed before birth.2, 3

What Is The Best Medicine For It?

The cause of neurofibroma, which is neurofibromatosis, has no cure till date. Therefore neurofibromas cannot be cured. However, ongoing monitoring of symptoms minimizes complications. The sooner the diagnosis and the subsequent observation by a specialist begin; the better will be the quality of life of patients despite the genetic defect.

Regular Monitoring: In patients with NF1, ongoing treatment includes regular monitoring of the skin surface, blood pressure, body growth and weight (especially in children), bones and joint health, tumors on the iris, hearing ability, and the learning capabilities of children and adolescents. Especially in childhood and puberty, a frequent observation for possible symptoms and body changes is necessary to detect and treat negative developments at an early stage.

When adulthood is reached, the examination of patients with neurofibromas is dependent on the individual manifestations of the defect. People with only minor symptoms require fewer examinations than people with more prominent signs. Even benign neurofibromas can affect nerves through their growth and may need to be surgically removed. If a neurofibroma is cancerous, common cancer treatment is initiated (surgery, chemotherapy, and radiotherapy).

Surgical Intervention: Symptoms of the disease may be eased by removing the tumor (completely or partially), which is damaging or pressing the neighboring organs and tissues. The surgery type is decided after evaluating the size and position of your tumor or if it involves more than a single nerve. The purpose of the procedure is to wipe out the maximum portion of your tumor if not the whole tumor without further damaging the nerve(s) involved. You may require physical rehabilitation after the operation to prevent muscle stiffness, and keeping the joints active. It will be better to consult a good physiotherapist to follow the right exercise regime.

Availability Of Clinical Trials: Your doctor may advise you for clinical trials if you are eligible. These are therapies at the experimental stage and may provide you with good outcomes. But, there is no certainty of treatment success.4, 5

Conclusion

Tumors of the peripheral nerves are rare and poorly understood. The diagnosis is rarely done before the procedure. Surgical treatment is difficult and may cause irreversible nerve damage if not done with precision. Neurofibroma symptoms are often discreetly associated with coffee-milk-colored stains on the skin. Imaging techniques for diagnosis and pathology of the disease have an important role in the management of these tumors.

References:  

  1. Ferner RE, O’Doherty MJ. Neurofibroma and schwannoma. Current opinion in neurology. 2002;15(6):679-684.
  2. Hassell DS, Bancroft LW, Kransdorf MJ, et al. Imaging appearance of diffuse neurofibroma. American Journal of Roentgenology. 2008;190(3):582-588.
  3. Neurofibromatosis I. Von Recklinghausen’s disease-Diagnosis from oral lesion. Neurofibromatosis I. Int. J. Odontostomat. 2010;4(2):179-183.
  4. Sabatini C, Milani D, Menni F, Tadini G, Esposito S. Treatment of neurofibromatosis type 1. Current treatment options in neurology. 2015;17(6):26.
  5. 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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