Neurofibromatosis type 1 is a genetic disease characterized by abnormalities of the central nervous system and the skin. With about one in 3000 newborns, neurofibromatosis type 1 is one of the most common genetic diseases.
What is neurofibromatosis type 1?
Type 1 neurofibromatosis (also known as Recklinghausen ‘s disease) is a genetically determined phakomatosis with malformations in the skin and central nervous system. See nonprofitdictionary for Chronic Obstructive Pulmonary Disease (abbreviated as COPD).
Neurofibromatosis manifests itself with pigment abnormalities that already appear in infancy, such as coffee-brown spots (café-au-lait spots or latte-coffee spots) and axillary and inguinal lentigines (freckle-like pigmentation in the armpit and groin area).
Another key symptom of neurofibromatosis type 1 are the neurofibromas found all over the body of the affected person. Neurofibromas are benign (non-cancerous) tumours, which mostly occur in childhood and can lead to pain and neurological deficits such as paraesthesia if, in addition to the skin, internal organs, especially the spinal cord nerves and the brain, are also affected.
In addition, with neurofibromatosis of this type, bone abnormalities such as scoliosis (curvature of the spine), iris hamartomas (Lisch nodules on the iris and the front of the eye) as well as learning and concentration difficulties are possible symptoms.
Neurofibromatosis type 1 is due to mutative gene changes, with Recklinghausen’s disease having a mutation of the so-called NF-1 gene (neurofibromatosis 1 gene) on the 17th chromosome, which leads to uncontrolled cell proliferation (cell reproduction and growth).
The mutation responsible for the manifestation of the disease is either passed on to the child from a parent via autosomal dominant inheritance or develops as a result of new mutations as spontaneous changes in the genetic makeup of the affected person (in about 50 percent of cases).
It is not yet known which factors trigger these mutative processes. It is assumed that the size of the affected chromosome, which increases the probability of mutations, plays a decisive role.
Symptoms, Ailments & Signs
Neurofibromatosis type 1 is primarily characterized by variously pronounced, mostly benign skin changes. This includes excessive pigmentation of the skin, which can already occur in babies and newborns. Their shape is often oval, while the color is vaguely reminiscent of milk coffee. This is why these are also known in medicine as café-au-lait spots.
Freckle-like mottles occasionally appear in the armpits, groin, or even the lining of the mouth. In advanced stages of the disease, benign nodules grow on the surface of the skin, some of them quite large, measuring several centimeters from the age of ten. These neurofibromas also occur spontaneously during pregnancy.
As a rule, the tumors and skin changes do not cause any pain or other symptoms. Aside from the aesthetic impairment, those affected can expect a healthy and pain-free life. The growth of neurofibromas is not limited to the skin surface. Their formation is also possible on the iris or within the body. Benign tumors on the optic nerve impede vision (optic gliomas).
Nerve fiber tumors and crooked bones (scoliosis) also put a strain on performance. The result is learning problems and loss of concentration. In extreme cases, the growths can also cause epileptic seizures. In a milder form, visual disturbances, signs of paralysis or a general tendency to discomfort can be observed. Very rarely, type 1 neurofibromas develop into malignant tumors and cause pain in the patient depending on the location.
Diagnosis & History
Type 1 neurofibromatosis is diagnosed based on the symptoms characteristic of the disease, such as café-au-lait spots, neurofibromas, multiple lentigines, and Lisch nodules. The underlying mutation on chromosome 17 (NF-1 gene) can be detected as part of a DNA analysis.
Familial accumulation of the disease can also indicate neurofibromatosis. If the specific mutation in the family is known, it can be detected prenatally by means of a chorionic villus biopsy or an amniocentesis. Imaging methods such as X-rays (scoliosis) or electroencephalography (impairment of the brain) are used to determine whether internal organs are involved.
Although the courses can vary greatly even within the family, neurofibromatosis has a mild course in the majority of cases (about 60 percent). If left untreated, neurofibromatosis can lead to pronounced impairments such as tumors of the optic nerve or the brain.
Whether there are complications in neurofibromatosis type 1 or not varies greatly. Some cases of illness take a mild course, while others affected can have serious consequences. For this reason, regular check-ups are extremely important because the doctor can identify effects that require treatment at an early stage.
The most common consequences of neurofibromatosis type 1 include the so-called partial performance disorders. This leads to learning difficulties in children who actually have normal intelligence. About half of all sick children are affected by the learning problems. It is not uncommon for behavioral disorders, attention deficits or hyperactivity to occur at the same time. However, the learning difficulties do not worsen. Support for the affected children should already take place before they start school.
Another consequence of neurofibromatosis type 1 is the appearance of neurofibromas under the skin. In some patients, they appear as early as childhood, in others only during puberty. Existing neurofibromas can grow during puberty. Depending on where in the body the tumors appear, neurological disorders or pain are possible.
Curvatures of the spine or scoliosis are also widespread among neurofibromatosis patients. They are more common in neurofibromatosis than in healthy people. Brain tumors or tumors of the optic nerve such as optic gliomas are considered serious complications. In addition, epileptic seizures are conceivable.
When should you go to the doctor?
Parents who notice the typical skin changes in their child should consult the pediatrician immediately. At the latest, when growths or nodules form on the skin, medical advice is required. Doctors can diagnose type 1 neurofibromatosis and start treatment right away.
If the skin injuries become infected, the child needs medical attention the same day. If fever and other side effects occur, an inpatient examination in the hospital is necessary. In addition to the family doctor or pediatrician, a dermatologist, neurologist, neurosurgeon or other internist can be consulted with type 1 neurofibromatosis.
The actual therapy usually takes place in a specialist clinic for skin diseases. In order to ensure optimal care, interdisciplinary advice can be useful. Since the disease can also be a significant burden for the parents, a therapeutic consultation is always useful. After the completion of treatment, the child must be examined by a doctor at least once a year. The doctor can clarify whether new tumors have developed and examine the internal organs as well as the eyes and ears for further damage.
Treatment & Therapy
Since the underlying cause of neurofibromatosis type 1 is genetic or mutative, it cannot be treated causally. The therapeutic measures are aimed at reducing the specific symptoms present and preventing potential subsequent symptoms.
Neurofibromas that cause the affected person disabling pain and/or have a risk of degeneration are usually (micro)surgically removed as part of an operative intervention. The tumors can be removed with a scalpel, a laser or as part of electrocautery. While neurofibromas located above the skin level are cut out with the scalpel, cutaneous tumors or tumors located at the skin level can be removed with the laser or by electrocautery.
The latter allows the heat to accelerate the hemostasis at the same time, which is a decisive advantage, especially in the case of neurofibromas with a large number of blood vessels. In principle, however, a comprehensive risk-benefit analysis should be carried out in all cases prior to the intervention, since any surgical intervention can result in paralysis as a result of a functional failure of the proximal nerves.
In addition, tumors in the area of the central nervous system can be unfavorably localized, so that even healthy tissue structures can be damaged by a surgical intervention. Likewise, radiotherapeutic measures for degenerated tumors should be carefully examined due to the increased risk of further degeneration.
Last but not least, additional symptoms of neurofibromatosis type 1 such as epilepsy (carbamazepin, clonazepam), lack of concentration (change in diet, concentration exercises) or scoliosis (physiotherapy, corset, operation) must be treated.
Outlook & Forecast
People suffering from neurofibromatosis type 1 suffer from an incurable disease. A genetic defect was identified as the cause of the health disorder. Since interventions and changes in human genetics are not permitted due to legal requirements, no healing can take place. This represents a significant burden for those affected and their relatives. In medical care, doctors concentrate on alleviating the existing and individually strong symptoms. In addition, a goal of treatment is to control the progression of the disease.
Thanks to medical advances, there are now various treatment approaches that lead to a significant alleviation of the symptoms. Regular medical monitoring is also used to prevent any complications. In many cases, impairments of sensory perception and motor disorders are to be expected. If medical treatment is not sought, the risk of serious consequences increases. In addition, the general quality of life is significantly impaired.
In many cases, those affected need intensive daily care because they cannot cope with everyday life on their own. Patients usually have to undergo repeated surgical procedures in the course of their lives. In these, tissue growths are to be removed so that signs of loss can be reduced or existing complaints can be resolved.
Since neurofibromatosis type 1 is a genetic or mutative disease, it cannot be directly prevented. To prevent complications, however, regular check-ups should be carried out in order to be able to initiate therapeutic measures in good time, especially if neurofibromas are present, which can degenerate into lymphomas or neurofibrosarcomas.
In the case of neurofibromatosis type 1, in most cases those affected only have very few and only very limited measures and options for aftercare. For this reason, the person affected by this disease must consult a doctor very early on so that other complications or symptoms do not arise. Normally, self-healing cannot occur.
Due to the genetic disease, no complete cure can take place. Therefore, if the person concerned wants to have children, they should definitely have a genetic examination and counseling carried out in order to prevent the recurrence of neurofibromatosis type 1 in the children. When it comes to treatment, those affected are usually dependent on the help and support of their own families.
Psychological support is often necessary to prevent depression and other mental disorders. In many cases, children with neurofibromatosis type 1 also need intensive support at school to prevent complications in adulthood. Physiotherapy and physical therapy measures are also very important, although many of the exercises from these therapies can also be carried out at home.
You can do that yourself
The pigment changes that often occur in connection with neurofibromatosis type 1 can be treated cosmetically by the patient himself, for example with appropriate creams. Parts of the body that are prone to pigment changes should definitely be avoided in direct sunlight.
The mental impairments sometimes associated with neurofibromatosis type 1 (e.g. partial performance disorders, behavioral problems or motor impairments) can be treated with appropriate therapies – also independently after the instructions of a therapist. The most important pillar next to conventional medical care are self-help groups. Self-help groups offer the patient a wide range of services, such as arranging therapy options, explaining the course of the disease and its forms of treatment and offering advice and support, for example when it comes to genetic testing of a fetus in the event of pregnancy. There are self-help groups in every state.
Neurofibromatosis type 1 progresses differently in each patient; life with uncertainty – when will neurofibromatosis type 1 break out, what exactly will happen then – is therefore an inevitable part of the patient’s life. It is advisable, possibly with the support of a suitable therapist, to find ways out of this unsatisfactory situation in order to be able to integrate the uncertainty into everyday life.