Neurofibromatosis e is a collective term for hereditary diseases that have the development of neurofibromas in common. These are benign nerve tumors.
What is neurofibromatosis?
The term neurofibromatosis includes up to eight clinical pictures. However, only two are of central importance: neurofibromatosis type 1 (also “Morbus Recklinghausen”) and neurofibromatosis type 2. See nonprofitdictionary for Brachydactyly (abbreviated as BD).
Since neurofibromatosis is caused by tumors of the nerves, it is characterized by a wide range of characteristics: the symptoms are not limited to certain areas of the body, but can theoretically manifest themselves anywhere on and in the body. However, some symptoms are characteristic of neurofibromatosis. So-called coffee latte spots appear on the skin in both neurofibromatosis type 1 and type 2.
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 functioning of the nervous system can be partially impaired by the tumor formation.
One of the key hallmarks of neurofibromatosis type 1 is the appearance of the “bell button phenomenon”. In this case, the neurofibromas form a soft knot that can be pressed 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; Skeletal changes can also occur here, for example severe deformation of the spine. As a result, orthopedic complaints usually occur.
Neurofibromatosis is caused by 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. One disease-carrying allele is therefore sufficient for neurofibromatosis to be passed on.
As a result of the genetic defect, benign tumors are formed which do not develop metastases. The tumors form from the Schwann cells, which primarily enclose the axons of the nerve cells and thereby insulate them electrically. Other tumors also form from parts of the endo- and perineural connective tissue.
The tumor formation of the nervous system can impair its function, which explains numerous symptoms of neurofibromatosis. In the context of neurofibromatosis type 1, neurofibromas (nerve tumors) form, which affect both the central and the peripheral and autonomic nervous system. In contrast to neurofibromatosis type 1, neurofibromatosis type 2 mainly affects the central nervous system: tumors develop in the brain and/or spinal cord.
Symptoms, Ailments & Signs
Since there are two types of the disease, the symptoms also differ. Type 1 is characterized by benign, oval, light brown skin nodules (neurofibromas) that can often be seen immediately after birth. They form on the skin or along the nerves. At the beginning they appear only sporadically, later they can cover the whole body. Because of their colour, they are also known as café-au-lait stains (milk coffee stains).
The nodules on the nerves can sometimes be seen through the skin with a bluish shimmer. When these nodules grow on the iris of the eye, they are called Lisch nodules. The skin lesions can vary in size, some measuring only a few millimeters, others several centimeters. In addition, spots that look similar to freckles form in the armpits and in the groin region.
Other symptoms such as scoliosis, epileptic seizures or tumors on the optic nerve are possible. Type 2 neurofibromatosis rarely shows skin signs. Rather, tumors on the auditory nerve are typical; they are called acoustic neuromas or schwannomas and usually only develop after puberty.
They impair hearing and balance and can trigger tinnitus. However, tumors can also form on other nerves in the central nervous system. Another possible symptom of type 2 disease is clouding of the lens of the eye.
Diagnosis & History
For the diagnosis of neurofibromatosis, there are slightly different core symptoms for types 1 and 2: Neurofibromatosis type 1 is diagnosed when, in addition to other criteria, at least five milk coffee stains and tumors in the skin (cutaneous) can be detected.
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 appear suddenly, but develops insidiously. The severity of the course of the disease can vary greatly and differs from case to case. In about 60% of those affected, neurofibromatosis is mild.
Complications that can occur as a result of the symptoms of the disease represent an additional health risk: Examples of possible complications are scoliosis and the pain associated with it, or epilepsy. They require appropriate treatment and additional monitoring.
As a hereditary disease, neurofibromatosis is often quite mild, but can also have very serious effects. For this reason, regular medical check-ups should be carried out on the child in order to quickly identify possible complications. Complications observed include curvature of the spine (scoliosis), brain tumors or tumors of the optic nerve. If the growths are under the skin (neurofibromas), severe pain and neurological disorders may occur.
Type I neurofibromatosis can also lead to epileptic seizures. Furthermore, partial performance disorders are also possible in children. These relate to learning difficulties in children of normal intelligence. Timely detection 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 every person.
In addition to mild courses, very severe and complicated courses are also possible. While some people affected by neurofibromatosis type I initially only develop a few pigment spots, others can already be affected by tumors in infancy. The further course of neurofibromatosis type II is also difficult to predict. In general, however, the number of tumors increases over the course of life. Overall, with both forms of the disease, the risk of developing malignant tumors increases as the disease progresses.
When should you go to the doctor?
If skin changes or abnormalities are observed in the newborn immediately after birth, they should be clarified by the doctors and members of the obstetric team. Lumps on the skin, pigmentation or discolouration must be evaluated. In various tests, serious or life-threatening diseases in particular are to be ruled out. If the existing peculiarities of the complexion increase in the coming weeks and months after the birth, a check-up visit with a doctor should take place.
Spots on the skin that spread to all areas of the body are considered uncommon and should be seen by a doctor. The skin changes are similar to the well-known and harmless freckles, but can still be clearly distinguished and differentiated from them. Swelling, pain or unusual behavior in the offspring are signs of a health problem that must be examined and treated by a doctor. If the affected person suffers from disturbances of sensory perception, impairment of vision or epileptic seizures in the further process of growth and development, there is cause for concern.
Decreased hearing can be seen as a warning sign. If the irregularities appear or increase in intensity, a doctor must be consulted immediately. In the case of changes in the skeletal system, palpable lumps under the skin or a deformation of the spine, a doctor’s visit is required as soon as possible.
Treatment & Therapy
Since neurofibromatosis is a hereditary disease, its treatment is limited to surgical removal of the tumor and treatment of the after-effects of the disease. In particular, the tumors of the auditory nerves can be removed at an early stage with a certain degree of success. In addition, there is no effective treatment option.
Outlook & Forecast
Neurofibromatosis is an incurable disease. Scientists were able to identify a genetic defect as the cause. Since the human genetics may not be changed according to the current legal requirements, the treatment approaches focus on alleviating the individual symptoms of the patient.
Treatment is advisable because the condition is associated with tissue growth and seizures. Alternative healing methods or the self-healing powers of the organism are therefore not sufficient to achieve a long-term improvement in health. In addition, the general risk of accidents is increased for some patients with balance disorders or existing hearing or vision impairments. They should be given the best possible support in everyday life in order to avoid secondary diseases or unwanted complications.
The best results are achieved with an early diagnosis and immediate start of treatment. Depending on the symptoms that have occurred, individual therapy methods are used in order to significantly improve the quality of life of those affected. Dealing with the disease is learned so that states of emotional stress are kept as low as possible.
Regular check-ups with a doctor are required throughout life. In addition, patients undergo repeated surgical procedures so that the tumors can be removed. Otherwise, they can damage surrounding tissues or cause the organism to malfunction, thereby causing further deterioration in health.
Prevention of neurofibromatosis is also not possible. However, early detection is crucial to avoid more severe forms or to alleviate the symptoms.
In most cases, those affected with neurofibromatosis have very few options for direct follow-up care. For this reason, the affected person should consult a doctor as early as possible in order to prevent the occurrence of further complications or symptoms.
The disease cannot be completely cured because it is a genetic disease. If those affected wish to have children, it may be advisable to have genetic testing and counseling carried out to prevent neurofibromatosis from recurring. Most of those affected are dependent on taking different medicines.
First and foremost, regular intake and the right dosage have a positive effect on the further course. Not infrequently, the psychological support of those affected by their own family is very important, whereby loving and intensive conversations in particular can have a positive effect on the further course.
Physiotherapy measures are also very important. Those affected can repeat many of the exercises at home. Neurofibromatosis does not usually reduce the life expectancy of the affected person.
You can do that yourself
Once neurofibromatosis has been identified, the most important course of action is close monitoring for symptoms. The responsible doctor will initiate further treatment steps so that the tumors can be removed quickly.
After an operation, the person concerned must take it easy. 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 bringing 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, you should consult a therapist. The professional can support the parents by pointing out ways to cope with stress. He can also put you in contact with a self-help group. There, affected parents are heard and, in conversations with other relatives, learn how to cope with the child’s illness.