Neurofibromatosis( Recklinghausen's disease) is a hereditary disease belonging to an autosomal dominant group. With it, there is a mutation of the gene, which often provokes the formation of tumors.
The disease is characterized by the appearance of irreversible changes in the nervous system and on the skin. Often accompanied by anomalies in other organs.
Six types of disease are divided, but in the modern world basically there is a type 1 neurofibromatosis. The disease was first described in the 19th century. Obsolete is the name of peripheral neurofibromatosis.
There is an ailment with the same frequency in men and women, in one of 3500 newborns. Non-malignant disease according to ICD-10 has the code Q85.0.
In half of cases, neurofibromatosis is hereditary, which affects Schwann cells, melanocytes, fibroblasts.
The disease leads to a disruption in the production of melanocytes, which forms a violation of pigmentation.
If only one copy of the defective DNA has been inherited, the disease will develop. The severity of the flow depends on the level of expression of the gene.
If the problem is found only in one of the parents, then the probability of inheritance is 50%.
Clinical manifestations in adults and children
The disease itself does not have clear symptoms, therefore its manifestation may be different. Sometimes there are optical gliomas, neuromas of the auditory nerve. The first problem is represented by education, which presses on the optic nerve and nearby structures.
Symptoms of neurofibromatosis include:
- involuntary eyeball movements,
- loss of vision,
The neurinoma of the auditory nerve develops from the cells of the vestibular portion of the auditory nerve. There is a loss of hearing and a violation of the vestibular apparatus. If the tumor is large, mental activity may suffer, but serious mental abnormalities do not occur.
In children, neurofibromatosis develops on the background of macrocephaly, which is characterized by a retardation in mental development and a tendency to epileptic seizures. These babies are at risk for developing leukemia.
Externally, the disease occurs depending on the type. Dark spots appear on the skin. A large number of subcutaneous or cutaneous cones are formed in body, brown or bluish tinge. They are of multiple character and grow along the nerve trunks.
Sometimes the formations are so large that they begin to hang, acquiring a bag-shaped form.
Photo of advanced neurofibromatosis
Among the common manifestations may appear pain, lack of sensitivity of any part of the body, skin itching, incomplete paralysis. Defeat can lead to asymmetry in the face, hands, or feet.
Types of neurofibromatosis and their symptoms
- In case of illness of the first type , there is a risk of developing neuroblastoma, leukemia, sarcoma. The peculiarity of the course is the presence of a sequence of symptoms. In the first years of life, there are large pigment spots, lesions of the skeleton. The remaining symptoms are detected by about 10 years. Gradually appears a large number of neurofibromas. Doctors can count thousands. Some weigh up to 10 kg. Diagnostic indicators include the presence of more than two symptoms:
- enhanced underarm coloration,
- appearance of iris-stained iris,
- appearance of skeletal dysplasia,
- development of more than two neurofibromata,
- more than 6 spots on the body of brown color.
- For neurofiromatosis type 2 is characterized by the presence of skin manifestations, spinal tumors, epilepsy. They diagnose if one of the next of kin is a carrier of a deformed gene. Also evidence of the disease presence of neurofibroma, meningiomas, schwannom, gliomas. Especially if one person meets different types. Often, patients discover cataracts, which began to manifest themselves in adolescence.
- The third type is mixed. The diagnosis is made in the presence of progressive tumors that affect the CNS.The onset of the disease is 20-30 years. Neyorfibromy appear on the hands, in the palm of the hand.
- The fourth type is distinguished by a large number of formations that are accompanied by glioma of the optic nerve, meningioma.
- The fifth type affects only a part of the skin. On the body appear pigmented spots, neurofibromas, which lead to an increase in body part. The trunk becomes asymmetric.
- Neurofibromatosis type 6 is manifested by multiple areas of pigmentation.
Diagnosis of Recklinghausen's disease
If you have subcutaneous tumors or pigmented spots, contact your dermatologist. After the examination, the doctor will send a consultation to a geneticist, a neurologist and other specialists. The diagnosis is made when two or more of the above characteristics are present.
As instrumental methods used:
- ultrasound of internal organs,
- Weber test.
Neurofibromatosis can become malignant and lead to a visual defect. Therefore, surgical treatment is mandatory. There are several options.
If a transformation occurred in the malignant area, the operation is carried out together with radiation and chemotherapy. They also help to reduce gliomas, to keep control over the disease.
Bone abnormalities are corrected only surgically.
The following therapeutic measures are carried out:
- restoration of disturbed metabolic processes in the body,
- operations for removal of neurofibres,
- manipulation to remove Lesch's nodules on the iris.
The method of surgical intervention depends on the location of the formations. Usually, due to the special structure of the neurofibre, they can be eliminated completely from the first time. Most often in the conditions of clinics, a laser technique is chosen.
In the treatment of neurofibromatosis, several rules must be adhered to:
- has products that increase immunity,
- treat diseases of the oral cavity and nasopharynx,
- prevent the development of dysbiosis,
- is not fatty food,
- is getting enough vitamins.
The use of folk methods can not replace traditional therapy, so it is better to use methods in combination, having consulted a doctor.
Folk methods include preparing various infusions:
- 40 gr.celandine filled with a glass of boiling water and infused for 20 minutes.drink 100 ml before meals.
- Cook the broth from the stem and burdock root as in the previous recipe. Take three times a day.
- Drink broth from the roots of the peony.40 gr.placed in a thermos bottle and curled by 3 glasses of hot water. Leave to stand for 30 minutes. Take before meals three times a day.
In conclusion, we note that neurofibromatosis of the 1st stage is more common, which is a progressive disease. Therefore, the symptoms only deteriorate over time.
The pregnancy usually leads to complications. It often causes the appearance of the first symptoms. Therefore, when the diagnosis is confirmed by genetic examination, pregnancy is contraindicated.
How to recognize neurofibromatosis on the skin, will tell the following video: