Neurofibromatosis: Causes, Symptoms & Treatment

Neurofibromatosis is a collective term for inherited diseases that have in common the development of neurofibromas. These are benign nerve tumors.

What is neurofibromatosis?

The term neurofibromatosis covers up to eight clinical pictures. However, only two are of central importance: neurofibromatosis type 1 (also known as “Recklinghausen disease”) and neurofibromatosis type 2. Because neurofibromatosis is caused by tumors of the nerves, it is characterized by a wide range of features: Symptoms are not limited to certain areas of the body, but can theoretically manifest anywhere on and in the body. However, some symptoms are characteristic of neurofibromatosis. In both neurofibromatosis type 1 and type 2, so-called latte spots appear on the skin. In addition, changes in the eyes are common: nodules in the iris, so-called Lisch nodules, indicate tumors in the eye. Deficits in sensory perception, especially hearing, also define neurofibromatosis – the tumor formation can partially impair the functioning of the nervous system. One of the defining features of neurofibromatosis type 1 is the occurrence of the “ringing button phenomenon.” In this, the neurofibromas form a soft nodule that can be pushed in with a finger, as if there were a hole in it. In neurofibromatosis type 2, the tumors can also often be seen and felt through the skin; in addition, skeletal changes can also occur here, for example severe deformations of the spine. As a result, orthopedic complaints usually occur.

Causes

The cause of neurofibromatosis is due to a hereditary disease: A defect on chromosome 17 is responsible for neurofibromatosis type 1, and a gene on chromosome 22 is responsible for neurofibromatosis type 2. The disease is inherited in an autosomal dominant manner. Therefore, one disease-bearing allele is sufficient to pass on neurofibromatosis. As a result of the genetic defect, benign tumors form without metastasis. The tumors form from Schwann’s cells, which mainly enclose the axons of the nerve cells and thus electrically insulate them. Other tumors also form from parts of the endo- and perineural connective tissue. Tumor formation of the nervous system can impair its function, which explains numerous symptoms of neurofibromatosis. In neurofibromatosis type 1, there is formation of neurofibromas (nerve tumors) affecting both the central and peripheral and autonomic nervous systems. In contrast to neurofibromatosis type 1, neurofibromatosis type 2 predominantly affects the central nervous system: tumors occur in the brain and/or spinal cord.

Symptoms, complaints, and signs

Because there are two types of the disease, the symptoms also differ. Type 1 is characterized by benign, oval, light-brown skin nodules (neurofibromas) that are often seen immediately after birth. They form on the skin or along the nerves. At the beginning they appear only sporadically, in the further course they can cover the whole body. They are also called café-au-lait spots (latte spots) because of their color. The nodules on the nerves can sometimes be seen shimmering bluish through the skin. If these nodules grow on the iris of the eye, they are called Lisch nodules. The skin appearances can vary in size, some measuring only a few millimeters, others several centimeters. In addition, spots similar to freckles form in the armpits and groin region. Other symptoms such as scoliosis, epileptic seizures or tumors on the optic nerve are possible. Type 2 neurofibromatosis rarely has skin signs. Tumors on the auditory nerve are more typical; they are called acoustic neuromas or schwannomas and usually develop after puberty. They impair the ability to hear and the sense of balance and can trigger tinnitus. Tumors can also form on other nerves of the central nervous system. Another possible symptom of type 2 disease is clouding of the lens of the eye.

Diagnosis and course

For the diagnosis of neurofibromatosis, there are slightly different core symptoms for types 1 and 2: Neurofibromatosis type 1 is diagnosed when, among other criteria, at least five latte spots can be identified, as well as tumors in the skin (cutaneous).A diagnosis of neurofibromatosis type 2 is essentially made when benign tumors are found on both auditory nerves. The course of the disease progresses slowly: Due to the relatively slow development of tumors, neurofibromatosis does not occur abruptly, but develops insidiously. The severity of the course of the disease can vary greatly and differs from case to case. Neurofibromatosis is mild in about 60% of patients. Complications that may occur as a result of the disease symptoms pose an additional health risk: Examples of possible complications include scoliosis and associated pain or epilepsy. They require appropriate treatment and must be additionally kept in mind.

Complications

As a hereditary disease, neurofibromatosis is often quite mild, but it can also have very serious consequences. Therefore, constant medical checkups should be performed already in the child to quickly detect possible complications. Complications observed include spinal curvature (scoliosis), brain tumors or tumors of the optic nerve. If the tumors are located under the skin (neurofibromas), severe pain and neurological disorders may occur. In the context of neurofibromatosis type I, epileptic seizures may also occur. Furthermore, partial performance disorders are also possible in children. These refer to learning difficulties in children with normal intelligence. Early recognition of possible complications can help to avoid later problems. No statement can be made for the further development of neurofibromatosis, because it develops differently in each person. Thus, in addition to mild courses, very severe and complicated courses are also possible. While some people affected by neurofibromatosis type I often only develop a few pigment spots in the beginning, others may already be affected by tumors in infancy. In neurofibromatosis type II, the further course is also difficult to predict. In general, however, the number of tumors increases in the course of life. Overall, in both forms of the disease, the risk of developing malignant tumors increases as the disease progresses.

When should you see a doctor?

If skin changes or abnormalities are observed in the newborn immediately after birth, they should be clarified by the doctors and people on the obstetric team. Nodules on the skin, pigmentation, or discoloration need to be assessed. In particular, serious or life-threatening diseases should be ruled out in various tests. If the existing peculiarities of the skin appearance increase in the coming weeks and months after birth, a control visit to a doctor should take place. Spots on the skin that spread to all areas of the body are considered unusual and should be presented to a doctor. The skin changes resemble the familiar and harmless freckles, but can still be clearly distinguished and differentiated from them. Swelling, pain or unusual behavior of the offspring are signs of a health impairment, which must be examined and treated by a doctor. If the offspring suffers from sensory perception disorders, impaired vision or epileptic seizures as it continues to grow and develop, there is cause for concern. A decrease in hearing power can be considered a warning signal. If the irregularities occur or increase in intensity, a physician must be consulted immediately. In case of changes in the skeletal system, palpable lumps under the skin or deformation of the spine, a visit to the doctor is needed as soon as possible.

Treatment and therapy

Since neurofibromatosis is an inherited disease, its treatment is limited to surgical removal of the tumors and treatment of sequelae of the disease. In particular, the tumors of the auditory nerves can be removed at an early stage with some success. Beyond that, there is no effective therapeutic option.

Outlook and prognosis

Neurofibromatosis is a disease that cannot be cured. Scientists have been able to identify a genetic defect as the cause. Because human genetics cannot be altered under current legal guidelines, treatment approaches focus on alleviating the patient’s individualized symptoms.Treatment is advisable because the disease is associated with growths of the tissue as well as seizures. Alternative healing methods or the self-healing powers of the organism are therefore not sufficient to achieve long-term health improvement. In addition, the general risk of accidents is increased in some patients with balance disorders or existing losses of hearing or vision. They should be given the best possible support in everyday life to avoid secondary diseases or unwanted complications. The best results are achieved if the diagnosis is made at an early stage and treatment is started immediately. Depending on the symptoms that have occurred, individual therapy methods are used to significantly improve the quality of life of the person affected. Coping with the disease is learned so that states of emotional stress are kept to a minimum. Regular check-ups with a physician are required throughout the patient’s life. In addition, patients undergo repeated surgical interventions so that the tumors can be removed. Otherwise, they can damage surrounding tissues or cause dysfunction of the organism, triggering further deterioration of health.

Prevention

Prevention of neurofibromatosis is also not possible. However, early detection is crucial to avoid more severe manifestations or to alleviate symptoms.

Follow-up

In most cases, the person affected by neurofibromatosis has very few options for direct aftercare. For this reason, the affected person should see a doctor as early as possible to prevent the occurrence of further complications or symptoms. The disease cannot be completely cured, as it is a genetic disease. If affected individuals wish to have children, it may be advisable to have genetic testing and counseling to prevent recurrence of neurofibromatosis. Most of those affected are dependent on taking various medications. First and foremost, regular intake and also correct dosage have a positive effect on the further course of the disease. Not infrequently, the psychological support of those affected by their own family is also very important, whereby especially loving and intensive conversations can have a positive effect on the further course. Physiotherapy measures are also very important. Many of the exercises can be repeated by the patients at home. Neurofibromatosis does not usually reduce the life expectancy of the affected person.

What you can do yourself

Once neurofibromatosis has been diagnosed, the most important action is to closely monitor symptoms. The responsible physician will initiate further treatment steps so that the tumors can be removed quickly. After a surgical intervention, the affected person must take care of himself. It is important not to expose the skin to any further stress, such as aggressive shampoos or irritating clothing. Strict personal hygiene must also be observed in everyday life. Parents of affected children should ensure that bedding is washed regularly and that floors and surfaces in the home are cleaned daily if possible. Further measures are limited to taking the child to regular medical check-ups. This allows the course of the disease to be monitored and the necessary measures to be taken in the event of any complications. Since neurofibromatosis often takes a severe course, a therapist should be consulted concomitantly. The professional can support the parents by showing them ways to cope with stress. In addition, he can establish contact with a self-help group. There, affected parents can find a voice and learn how to cope with their child’s illness by talking to other relatives.