Neurofibromatosis is a hereditary disease characterized by the appearance of tumors. As a rule, most of them are benign. Tumors can be localized on the skin, in the brain or spinal cord, nerves and other organs. Treatment involves the surgical removal of tumors and subsequent monitoring of complications. Quite often, neurofibromatosis in children is diagnosed. Symptoms in each case may vary somewhat. However, doctors distinguish a whole group of clinical signs characteristic of this disease. We will tell about them and the main methods of treating this disease in young patients in this article.
Disease Description
Neurofibromatosis is considered a genetic disease that is inherited. It is characterized by the development of defects in the brain / spinal cord, skin, some internal organs, as well as the nervous system.
Neurofibromatosis disease is manifested by the formation of tumors. When neoplasms increase in size, they can infringe on vital organs, thereby provoking the development of concomitant health problems.
Neurofibromas (tumors), as a rule, appear in childhood, and more precisely during puberty. The first clinical signs are age spots. They are not accompanied by pain or itching. Brown spots can be localized in absolutely any part of the body, including in the armpits and inguinal zone.
According to experts, most often neurofibromas are benign in nature, only 5% of them undergo a malignancy process, that is, malignant degeneration. However, even benign formations often carry a danger to the body. The thing is that over time they increase in size, disrupting the normal functioning of some internal organs.
Neurofibromatosis in children can be accompanied by abnormalities of bone tissue. The severity of the disease varies from mild to extremely severe, and the latter entails disability.
Causes
Why does neurofibromatosis develop? The causes of this disease, according to experts, lie in 50% of cases in a hereditary predisposition. To be more precise, it is a genetic factor that affects some cells of the nervous system (lemocytes, melanocytes, endoneural fibroblasts). This disease manifests itself in the form of numerous tumors that take the form of age spots, subcutaneous cones. In some cases, problems with the skeleton are possible. Such disorders in the body affect the spinal nerves.
In the case of a genetic factor, the disease develops regardless of the type of inherited defective gene. For example, if one of the parents has a damaged gene, in half the cases, children can inherit this ailment. It is important to note that the degree of manifestation of the disease directly depends on the level of expression of the genes themselves.
On the other hand, the cause of the pathology is often a random factor, that is, a spontaneous mutation. Scientists continue to actively study the mechanisms of the occurrence of a disease such as neurofibromatosis. The reasons for the appearance of the disease in terms of spontaneous mutation today are almost impossible to explain.
It is important to note that the disease is diagnosed in the same way both among men and among the fair sex. That is why it is difficult to attribute it to gender.
Neurofibromatosis in children occurs solely because of a genetic nature, since spontaneous mutation is only an acquired pathology in older patients.
Classification
Currently, in general, the disease is conditionally divided into 6 forms:
- Recklinghausen's disease (type 1 neurofibromatosis) is diagnosed in 90% of cases. This form is characterized by the development of benign neoplasms, age spots on the skin, bone abnormalities and a change in the iris of the eye.
- Neurofibromatosis type 2 is very similar in clinical manifestations to the first type, however, skin defects are not so noticeable. In this case, the disease manifests itself in the form of multiple neuromas of the brain and spinal cord, as well as the auditory nerve. CNS tumors, as a rule, form in the interval between 20 and 30 years of life.
- The third type is characterized by a large number of neurofibromas, which in some cases cause optic nerve glioma and meningioma.
- The fourth type is otherwise called segmented, since in this case, the pathology affects the skin locally.
- The fifth type is distinguished by the absence of nodular neoplasms, but the presence of pigmented spots of coffee shade.
- The sixth type of disease is diagnosed in patients after the age of 20 years, but in this case, the genetic factor does not play a special role.
It is important to note that in small patients only two forms of the disease are possible: type 1 neurofibromatosis and type 2 neurofibromatosis.
Symptoms
According to experts, about a third of patients for a long time may not even suspect a disease. Most often, the ailment is diagnosed at the next preventive examination. Doctors note the presence of small nodules under the skin.
A second third of patients detect a disease of neurofibromatosis with the appearance of any disorders of a neurological nature.
Many people learn about their diagnosis only after visiting a beautician. Brown spots appear on the face, back and limbs. It is this clinical sign, as a rule, that serves as the reason for contacting a specialist.
It is important to note that neurofibromatosis in children manifests itself in a slightly different way. Symptoms are most often present from the first days of life. Here, first of all, we are talking about numerous pigment spots on the skin. In adolescence, small tumors of different sizes and shapes are found. Such neurofibromas can be only a few or more than a hundred. In some patients, changes in the skeleton are noted (scoliosis, deformation of the hips, defects in the bones of the skull in the eye area).
It is important to note that tumors can spread to any nerve in the body, however, they mainly appear from the cells of nerve roots. In this case, they do not cause any serious violations. If tumors act directly on the spinal cord, there is a serious danger to the patient's health.
Recklinghausen's neurofibromatosis (type 1), as a rule, manifests itself at an earlier age. For this ailment, the formation of pigment spots of a light brown hue is characteristic. It is noteworthy that they can occur in completely healthy children. If there are more than five such spots on the body with a diameter of 5 mm or more, it is necessary to conduct a diagnostic examination to exclude a disease such as Recklinghausen neurofibromatosis.
The second type of ailment is most often diagnosed already in adolescence. It is characterized by the formation of tumors that affect the auditory nerve. In addition, patients have epileptic seizures, tinnitus, headaches and vestibular disorders.
Diagnostics
First of all, a medical examination will be required to confirm this disease, since obvious clinical signs make it possible to make an accurate diagnosis. However, in some cases, additional examination is required. The physician should take into account the above types of neurofibromatosis in order to make a final diagnosis.
Recklinghausen's disease is confirmed if the patient has at least two of the following symptoms:
- Nodules Lisha.
- Brown spots are of a certain amount and size.
- Specific bone abnormalities.
- Two or more neurofibromas.
- Hyperpigmentation in the axillary / inguinal zone.
- The presence of the disease in close relatives.
For a more detailed study of existing neoplasms, the doctor, as a rule, prescribes MRI, radiography and CT. An x-ray is necessary to identify possible abnormalities in the human bone apparatus.
Diagnosis of a disease of the second type implies an audiogram. This is a special study that measures the patient’s hearing acuity.
Regardless of the type of disease, everyone, without exception, is recommended a so-called analysis for neurofibromatosis. It implies the most common genetic testing, including prenatal testing. The last option is an analysis of amniotic fluid or chorionic villi.
When and which doctor should be called
First of all, it should be noted that several specialists are most often involved in the treatment of this disease. A neurologist observes a small patient from childhood, and subsequently other doctors join. As noted above, neurofibromatosis is a hereditary disease that is associated with a mutation of certain chromosomes. Therefore, at present, doctors cannot offer a radical treatment. In the case of a fast-moving disease, there is a need for surgical treatment if neurofibromas are localized on the internal organs. Neurosurgeons, as a rule, have the responsibility for tumor nodes, which are also removed.
What should be the treatment
Modern medicine cannot offer radical methods for the treatment of this disease. That is why doctors, as a rule, prescribe symptomatic therapy. It means taking certain groups of drugs (Ketotifen, Fenkarol, Tigazon) to restore metabolic processes in the body and reduce the manifestation of clinical signs of such an ailment as neurofibromatosis.
Treatment is prescribed exclusively by a doctor and individually, taking into account the specific manifestations of the disease. When prescribing therapy, the results of genetic analysis, the conclusion of an orthopedist, ophthalmologist and oncologist are also taken into account.
Often required surgical intervention. It is important to note that it is extremely rare to remove all tumor nodes due to the high prevalence of the process. In some cases, a skin graft is additionally required. The main indications for surgical intervention are the following: severe pain in the affected area, ulceration of the nodes, malignancy, disruption of vital organs. For cosmetic purposes, surgery is prescribed extremely rarely, as the likelihood of aggravating neurofibromatosis increases. Treatment with folk remedies is unacceptable.
Today, a large number of cases of the development of this ailment are known, as a result of which other diseases arose. That is why it is so important not to leave the problem unattended.
Possible complications
As already noted above, children's neurofibromatosis should not be ignored. Treatment should be timely and qualified. Otherwise, the likelihood of developing serious problems that affect the intellectual and physical health of the small patient, his quality of life is very high. Experts identify the following possible complications:
- Arterial hypertension.
- Convulsions (observed in 40% of cases in children with the first type of ailment).
- Deafness.
- Speech Disorders.
- Scoliosis.
- Visual impairment.
- Delayed sexual development.
Neurofibromatosis in children, the symptoms of which were described above, requires mandatory constant medical supervision, prevention of complications. If necessary, the doctor may recommend rehabilitation measures.
Hearing loss with neurofibromatosis of the second type is considered an indication for the installation of a special auditory implant. This device continuously transmits audio signals to the brain, allows the child to perceive sounds and recognize speech.
Prevention
Unfortunately, doctors currently cannot offer effective measures to prevent this disease. The thing is that the final causes of its occurrence have not been studied. Specialists only recommend constantly monitoring the health of the child, regularly leading him to medical examinations.
When should alert neurofibromatosis
In children, symptoms primarily appear in the form of light brown spots on the skin. If your child has these symptoms, it is extremely important to consult a specialist to rule out this diagnosis.
If neurofibromatosis is already confirmed, it is necessary to constantly monitor the condition of a small patient, the formation of tumors. When increasing the latter, it is also recommended to seek qualified help.
The most important thing in this matter is to detect the ailment as early as possible. According to statistics, about 60% of children with this diagnosis have relatively mild signs of the disease. Moreover, many do not need special treatment at all.
Thus, it becomes clear that ahead of time, you should not be afraid of a disease such as neurofibromatosis in children. Photos of young patients clearly prove that you can live with such a pathology. Of course, children with more serious forms of the disease often have complications. However, with constant help and support, they can lead a very productive, and most importantly, happy life.