Neurofibroma: Causes, Symptoms & Treatment

A neurofibroma is a usually benign tumor that can occur as part of the genetic disorder neurofibromatosis. The tumors affect nerve tissue and may need to be removed if affected.

What is a neurofibroma?

A neurofibroma is a genetic disorder that triggers cell growth within the nervous system, which then develops into tumors. These tumors can develop anywhere in the body, including the brain and spine. The predisposition to develop neurofibromas is often discovered in childhood or young adulthood. The tumors are benign in most cases, but cancer can develop in exceptional cases. People affected by nerofibromas usually experience only minor symptoms. However, the effects on the nerves can extend to hearing loss, learning difficulties, heart disease problems, vision loss and serious nerve pain. Treatment of neurofibromas focuses on preventing malignant tumors and treating complications once they occur. Large tumors and tumors that restrict nerve activity are sometimes surgically removed.

Causes

Neurofibromas have genetic causes, triggered by mutations either passed on to the child by a parent or developing spontaneously. Different forms of neurofibromas exist, which have their cause in mutations of different genes. NF 1 (neurofibromatosis 1) is located on the 17th chromosome. The gene produces the protein neurofibromin, which is released into the nevensytem and stimulates cell growth. A mutation of the NF1 gene produces a lot of protein and causes uncontrolled cell growth. A similar thing happens when the NF2 gene on the 22nd chromosome is mutated. Here, the protein Merlin is produced, which also results in uncontrolled cell growth. The third mutation is called schwannomatosis and also develops on the 22nd chromosome. The effects and origins of this mutation have not yet been elucidated in more detail.

Symptoms, complaints, and signs

Neurofibromas are usually not visible externally. The tumors are hidden under the skin and rarely cause swelling. Occasionally, however, neurofibromas appear in the form of nodules that can be felt under the skin. Especially under the armpits, in the chest area and in the neck, the nodular skin changes can be easily palpated. Depending on their location, the tumors can lead to restricted movement, pain and paralysis. Occasionally, dizziness and other failure symptoms also occur. If the auditory canals are involved, hearing loss or even hearing loss may occur. Large growths are associated with a particularly high number of complications. Patients are usually very uncomfortable, accompanied by chronic pain, nerve dysfunction, and a variety of other accompanying symptoms. Many patients also develop psychological problems as a result of the tumors, such as inferiority complexes, anxiety or depression. Since neurofibromas are benign tumors, early treatment is usually successful. The described signs of the disease subside as soon as the tumors are removed. If the cause is not treated, neurofibromas may recur again and again, causing considerable distress to the patient. In the long term, the painful tumors have a very negative effect on the quality of life of those affected.

Diagnosis and course

The physician will make the diagnosis based on personal medical history, family medical history, and symptoms. Neurofibromas that develop as a result of NF1 disease are first identified by physical examination. Here, a special lamp may be used to reveal colored dots on the patient’s skin. Since neurofibromas occur in clusters in certain parts of the body, specialists may examine certain regions separately. An eye exam will look for characteristic defects in the iris that indicate a neurofibroma. An otologist will test hearing and balance to determine any effects on this branch of the nerve. If it is suspected that the neurofibroma is affecting the bones, joints or spine, imaging tests such as x-rays or CT’s may be considered. DNA testing is also available for all versions of the disease and can be performed before birth if necessary.

Complications

Neurofibromas are hereditary benign tumors that very rarely lead to complications. In most cases, affected patients do not even have symptoms. Whether symptoms occur also depends on where the tumors are located and the underlying genetic disease. Sometimes, however, such severe impairments occur that surgical removal of the neurofibromas becomes necessary. This is the case when the tumors become too large and significantly restrict nerve activity. In rare cases, this can result in hearing loss or even hearing loss, significant nerve pain, or problems with the coronary arteries, among other things. In many patients, however, multiple neurofibromas also cause psychological problems that can lead to their social isolation. As a result, depression and various other psychiatric disorders often develop. This causes many affected persons to have the neurofibromas removed already for cosmetic reasons. Very rarely, however, it also happens that neurofibromas degenerate into malignancy. In these cases, their removal is always urgent. However, surgical removal of neurofibromas can also lead to permanent nerve damage. Since neurofibromas are closely connected to the attached nerves, these must of necessity also be removed during surgery. Thus, when neurofibromas are operated on, there is always a risk of loss of function in the central nervous system or peripheral nerves.

When should you see a doctor?

Anyone who notices signs of neurofibromatosis in themselves or their child should consult a doctor quickly. For example, symptoms such as swelling, undefinable pain, or visible changes in the skin must be examined by a doctor. The same applies to psychological changes or hormonal fluctuations that cannot be attributed to any specific cause. In any case, the disease requires medical diagnosis and treatment, otherwise the growth of the tumor and the associated complications are to be feared. Persons who have already suffered from a tumor once should inform the responsible physician in any case with the suspicion of recurrence. With a neurofibroma, one can go to a general practitioner or to a specialist in tumor diseases. Various internists, such as nephrologists or gastroenterologists, are responsible for the treatment of tumors in the corresponding body regions. A neurofibroma usually needs to be surgically removed. During treatment, the patient must see a doctor regularly to ensure that no complications occur.

Treatment and therapy

The cause of neurofibromas, neurofibromatosis, currently cannot be cured. But ongoing monitoring of symptoms will minimize complications. The earlier diagnosis and subsequent observation by a specialist begins, the better the quality of life despite the genetic defect. In patients with NF1, ongoing treatment includes regular monitoring of skin surface, blood pressure, body growth and weight (especially in children), bones and joints, learning abilities of children and adolescents, eye. Especially in childhood and puberty, frequent control of symptoms and body changes is necessary to treat negative developments at an early stage. When adulthood is reached, the examinations depend on the individual manifestations of the defect. People with only mild symptoms require fewer examinations than those with more obvious signs. Even benign neurofibromas can affect nerves as they grow and may need to be surgically removed. If a neurofibroma is cancerous, common cancer treatment is initiated (surgery, chemotherapy, radiation therapy).

Outlook and prognosis

People diagnosed with a neurofibroma suffer from an incurable disease. Since the prognosis is basically unfavorable. The cause of the health impairment is a genetic defect. According to the current status, legal regulations prohibit the modification of human genetics. Therefore, complete recovery cannot occur. If medical care is not sought, various complications may occur throughout the life span. Although the tumors are benign, they can still press on surrounding tissue or other organs.In addition, there is an increased risk that mutations will occur. This makes it more likely that the average lifespan will be shortened. If the tumors occur inside the head, they press on the brain. In these cases, various functional disorders are possible. Those affected need regular and continuous medical care to improve their general quality of life and to avoid secondary diseases. The development of the disease must be monitored so that surgical interventions can be performed if necessary. The growths are removed so that no further damage can occur. In this way, good medical care can prevent possible developmental disorders or initiate a timely improvement in general health. Since the disease is a strong emotional burden for the affected person, psychological sequelae can occur at any time. The prognosis would then be worsened.

Prevention

Prevention of neorofibroma does not currently exist because the disease is passed on genetically. Parents with NF1 or NF2 have a 50% chance of passing the disease to their children. The risks for the onset of schwannomatosis are still largely unclear.

Follow-up

In the case of isolated neurofibromas that are surgically removed, follow-up after surgery is usually not necessary. The skin will scar at the appropriate site. In the case of extensive occurrence and severe damage to the skin caused by the operations, cosmetic aftercare may be considered. In this case, skin transplantation can be considered. However, this is not medically necessary. However, neurofibromas that appear for the first time are a reason to be examined regularly for skin changes. This form of follow-up can detect growing nerve changes at an early stage. Accordingly, it can lead to more rapid interventions. In addition, neurofibromas are usually a symptom of a genetic disease. Neurofibromas can also occur within the body and here, for example, affect organs or the brain. Accordingly, follow-up examinations are important to detect risks at an early stage. There are several gene mutations that entail lifelong control and follow-up examinations in this context. There may also be a loss of function in removed nerve nodules. This is due to the fact that the affected nerves must also be partially removed. Aftercare in this case consists of therapy to regain function where possible. Sometimes a neurofibroma also degenerates and cancer develops. In this case, the aftercare depends on the disease.

What you can do yourself

People who have a neurofibroma should inform themselves comprehensively about the disease and the possible impairments. Since mutations can occur in individual cases, the risk of malignant development should not be underestimated under any circumstances. Regular medical checks and examinations are necessary to avoid triggering life-threatening situations. In the event of conspicuous changes, contact should be made with a physician immediately. In everyday life, it is important to face developments with optimism and confidence despite the disease. A positive attitude to life makes it easier to cope with the challenges that arise. Mental support is helpful in reducing stress. Training and exercises from the repertoire of various mental techniques help to restore inner balance and strengthen well-being. Neurofibroma is a genetic disease and can be treated well with the available medical options. Therefore, experimentation or self-experimentation should be avoided and instead confidence in the conventional medical options should be built. A timely clarification of all symptoms can lead to improved treatment. If the swellings on the body are perceived as an unpleasant visual blemish, the affected person should adequately protect himself with clothing. In addition, support for self-confidence is advisable in order to be able to cope better with the disease in everyday life.