A neurofibroma is a mostly benign tumor that can occur as part of the genetic disorder neurofibromatosis. The tumors affect the nerve tissue and may have to be removed if they are impaired.
What is a neurofibroma?
A neurofibroma is a genetic disorder that causes cells to grow within the nervous system, which then develop into tumors. These tumors can develop anywhere in the body, including the brain and spine. See nonprofitdictionary for Autosomal Dominant Polycystic Kidney Disease (abbreviated as ADPKD).
The predisposition to the development of 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 only experience minor symptoms. However, the effects on the nerves can lead to hearing loss, learning difficulties, coronary heart problems, vision loss and serious nerve pain.
Treatment of neurofibromas focuses on preventing malignant tumors and treating complications as they arise. Large tumors and tumors that restrict nerve activity are sometimes surgically removed.
Causes
Neurofibromas have genetic causes, caused by mutations that are either passed from parent to child or develop spontaneously. There are different forms of neurofibromas that are caused by mutations in different genes.
NF 1 (Neurofibromatosis 1) is located on the 17th chromosome. The gene produces the protein neurofibromin, which is released into the nervous system and stimulates cell growth. A mutation in the NF1 gene produces a lot of protein and causes uncontrolled cell growth.
Something similar also happens with the mutation of the NF2 gene on the 22nd chromosome. The protein merlin is produced here, 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 yet to be fully understood.
Symptoms, Ailments & Signs
Neurofibromas are usually not visible externally. The tumors are hidden under the skin and rarely cause swelling. Occasionally, however, neurofibromas present as nodules that can be felt under the skin. The nodular changes in the skin can be easily felt under the armpits, in the chest area and on the neck in particular.
Depending on their location, the tumors can lead to restricted mobility, pain and symptoms of paralysis. Occasionally, dizziness and other symptoms also occur. If the ear canals are involved, hearing loss can occur. Large growths are associated with a particularly large number of complications. Patients usually feel very uncomfortable, accompanied by chronic pain, nerve disorders and a variety of other accompanying symptoms.
Many patients also develop mental problems as a result of the tumors, such as inferiority complexes, fears or depression. Since neurofibromas are benign tumors, early treatment is usually successful. The symptoms described subside as soon as the tumors have been removed. If the cause is not treated, neurofibromas can occur again and again and put a considerable strain on the patient. In the long term, the painful tumors have a very negative effect on the quality of life of those affected.
Diagnosis & History
The doctor will diagnose you based on your personal medical history, family history, and symptoms. Neurofibromas that develop as a result of NF1 disease are first detected by physical examination.
A special lamp can be used here to make colored dots on the patient’s skin visible. Since neurofibromas occur more frequently in certain parts of the body, specialists may examine certain regions separately. An eye exam looks for characteristic defects in the iris that indicate neurofibroma. An audiologist will test hearing and balance to determine any effects on this nerve branch.
If the neurofibroma is suspected to be affecting bones, joints, or the spine, imaging tests such as X-rays or CT ‘s may be considered. A DNA test is also available for all versions of the disease and can be carried out before birth if necessary.
Complications
Neurofibromas are hereditary benign tumors that only very rarely lead to complications. In most cases, the affected patients do not even have any symptoms. Whether symptoms occur also depends on where the tumors are located and what underlying genetic disease is behind them. Sometimes, however, the impairment is so severe 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, it can lead to hearing loss, severe nerve pain or problems with the coronary arteries. In many patients, however, the multiple neurofibromas also cause psychological problems that can lead to their social isolation.
Depression and various other psychiatric disorders often develop as a result. This causes many sufferers to have the neurofibromas removed for cosmetic reasons. It is very rare, however, for neurofibromas to become malignant. In these cases, their removal is always urgently required.
However, surgical removal of neurofibromas can also lead to permanent nerve damage. Since neurofibromas are closely connected to the attached nerves, these must necessarily be removed during operations. Thus, when operating on neurofibromas, there is always a risk of functional failures in the central nervous system or in the peripheral nerves.
When should you go to the doctor?
Anyone who notices signs of neurofibromatosis in themselves or their child should consult a doctor as soon as possible. Symptoms such as swelling, indefinable 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 a specific cause. In any case, the disease requires a medical diagnosis and treatment, as otherwise there is a risk of tumor growth and the associated complications.
People who have already had a tumor should always inform the doctor responsible if they suspect a recurrence. With a neurofibroma, you can go to the general practitioner or to a specialist in tumor diseases. Various internists such as nephrologists or gastroenterologists are responsible for treating tumors in the relevant body regions. A neurofibroma usually has to be surgically removed. During treatment, the patient must regularly visit a doctor, thereby making sure that there are no complications.
Treatment & Therapy
The cause of neurofibromas, neurofibromatosis, cannot currently be cured. However, by continuously monitoring the symptoms, complications are kept to a minimum. The earlier the 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 in children and adolescents, and the eye. Especially in childhood and puberty, frequent monitoring of symptoms and body changes is necessary in order 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 minor symptoms need fewer tests than people with more obvious signs. Even benign neurofibromas can affect nerves as they grow and may have to be surgically removed. If a neurofibroma is cancerous, standard anti-cancer treatment is started (surgery, chemotherapy, radiation therapy).
Outlook & Forecast
People diagnosed with neurofibroma have an incurable disease. The prognosis is generally unfavorable. The cause of the health impairment is a genetic defect. According to the current status, legal requirements prohibit any modification of human genetics. Therefore, full recovery cannot occur.
If medical care is not sought, various complications can occur over the entire lifespan. Although the tumors are benign, they can still press on surrounding tissue or other organs. There is also an increased risk of mutations occurring. This means that the average life span is more likely to be shortened.
If the tumors occur inside the head, they press on the brain. In these cases, different malfunctions 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 observed in order to be able to carry out surgical interventions if necessary. The growths are removed so that no further damage can occur.
In this way, possible developmental disorders can be prevented through good medical care or a timely improvement in general health can be initiated. Since the disease is a strong emotional burden for those affected, it can lead to psychological disorders at any time. The prognosis would then be worse.
Prevention
There is currently no prevention of neorofibromas because the disease is passed on genetically. Parents with NF1 or NF2 have a 50% chance of passing the disease on to their children. The risks for the occurrence of schwannomatosis are still largely unclear.
Aftercare
In the case of isolated neurofibromas that are surgically removed, no follow-up care is usually necessary after the operation. The skin scars in the appropriate place. In the event of a large-scale occurrence and severe damage to the skin as a result of the operations, cosmetic aftercare can be considered. Skin grafts come into question here. However, this is not medically necessary.
However, neurofibromas that appear for the first time are an occasion to be examined regularly for skin changes. This form of follow-up can identify growing nerve changes at an early stage. Accordingly, it can lead to faster interventions.
In addition, neurofibromas are usually a symptom of a genetic disease. Neurofibromas can also occur within the body and affect organs or the brain, for example. Accordingly, follow-up examinations are important in order to identify risks at an early stage. There are several gene mutations that involve lifelong monitoring and follow-up in this context.
A functional failure can also occur if the nerve nodules are removed. This is due to the fact that the affected nerves have to be partially removed as well. Follow-up care consists of therapy to regain function where possible. Sometimes a neurofibroma also degenerates and cancer develops. In this case, follow-up care depends on the disease.
You can do that yourself
People suffering from a neurofibroma should obtain comprehensive information about the disease and the possible impairments. Since mutations can occur in individual cases, the danger of a malignant development should not be underestimated. Regular medical checks and examinations are necessary to avoid life-threatening situations. If there are noticeable changes, contact a doctor immediately.
In everyday life, it is important to face developments with optimism and confidence despite the illness. With a positive attitude to life, challenges that arise can be better overcome. Mental support is helpful for reducing stress. Training and exercises from the repertoire of various mental techniques help to create inner balance and improve well-being. Neurofibroma is a genetic disease and can be treated well with existing medical options. Therefore, experiments or self-experiments should be avoided and instead trust in the possibilities of conventional medicine should be built up. Timely clarification of all complaints can lead to improved treatment.
If the swelling on the body is perceived as an unpleasant visual blemish, the person concerned should protect themselves adequately with clothing. In addition, support for self-confidence is advisable in order to be able to better cope with dealing with the disease in everyday life.