Recklinghausen's disease or Type 1 neurofibromatosis is a hereditary pathology that results in the development of tumors or neurofibre from nerve tissues.
Tumors can occur in the nerves of the central nervous system and peripheral nerve endings. Her pathology was named after her first discoverer, Friedrich von Recklinghausen. He described this violation in 1882.
Pathophysiology and causes
Neurofibramatosis Recklinghausen appears as a result of mutational changes in the NF-1 gene in the seventeenth q-chromosome. According to scientific research, it is revealed that this gene is involved in the process of protein synthesis of neurofibromin, which is responsible for tumor suppression.
If there is an insufficient level or complete absence of this gene, the result will be a transition of cells of the nervous tissue into a tumor.
Inheritance of the disease occurs autosomal dominant way. If the parent has this violation, then the probability of a child with this disease can reach up to 50%.
Sometimes this disease can develop as a result of spontaneous mutational changes, the development of which is already observed in the genetically incorporated material( egg or sperm) of parents that do not have this deviation in the genus.
Forms and types of violation
Depending on the area of ​​development of neural tissue tumors( CNS or peripheral nerves), two types of disease are distinguished:
- The form of the peripheral type ( also called Recklinghausen type 1 disease).During this type, tumors are mainly formed from peripheral nerve tissues.
- Form of the central type ( also called Recklinghausen type 2 disease).During the development of this form of disorder, the formation of tumors of the CNS nervous tissues takes place.
There are also the following types of disease: 
- III type( mixed) .This form is caused by neoplasms of the CNS with rapid progression. This type of disease occurs at the age of 20-30 years. During it occurs the appearance on the surface of the palms of the neurofibre.
- IV type .During this form, a large amount of neurofibroma occurs.
- V type( segmented) .During this form, multiple lesions of a unilateral character are observed. There is hyperpigmentation and neurofibromas. Usually, this violation involves affecting a certain part of the body.
- VI type .With this type, only pigmented spots appear, neurofibromas are absent.
- VII type .This type of disorder is caused by the late onset of the disease. It is accompanied by the formation of a neurofibre after 20 years.
Features of the clinical picture
Initial symptoms of recruillinghausen neurofibramatosis appear in newborns or in children aged 1-3 years. On the surface of the skin, middle pigmented spots appear.
The coloration of these spots usually has a yellowish brown tinge similar to that of coffee with milk. There may also appear spots with a blue, purple color, as well as spots with a depigmented type.
Further on the surface of the skin these spots go into a state of neurofibromus, they can appear on the surface of the skin and under it. In appearance, neurofibromas are similar to protuberances of the hernial type, the size of which can be more than a centimeter. In rare cases, they can grow to large sizes with a weight of almost 2 kilograms.
Tumors are mainly formed closer to 20 years. Skin color over these formations can remain unchanged, or acquire a brown or pink color with a bluish tinge.
Basically, these tumors are located on the skin of the trunk, but sometimes they can occur in other parts of the body. During palpation, the neurofibre feels a soft structure, it is rare that it can have a dense structure. When you click on it, there is a dip into the void.
On the photo of the Lish node - a characteristic sign of Recklinghausen's disease
During the formation of the fibroids, there may be problems with sensitivity. Usually during this period the following symptoms occur:
- feeling of itching;
- occurrence of a feeling of creeping crawling all over the body;
- is a numbness;
- tingling;
- may experience a slight pain.
These symptoms can occur in all organs, but to a large extent they are observed in the tissues of the nervous, endocrine, bone systems and organs of vision.
In the peripheral form of the disease, the following symptoms appear:
- skull may acquire an asymmetric shape;
- manifestation of scoliosis;
- appearance of the spina bifida and so on.
Almost 94% of cases in patients with peripheral type disorders appear one or more Lische nodules( white spots).
In cases of disorders related to the central nervous system, gliomas and meningiomas appear on the spinal roots or cranial nerves.
What additional signs may appear during the CNS nerves lesions: 
- the occurrence of headaches;
- may cause imbalance;
- can completely lose sensitivity;
- problems with speech, observed its change;
- manifestation of symptoms of lesions of craniofacial nerves.
In addition to this type 1 neurofibromatosis is accompanied by the following pathologies:
- appearance of early puberty;
- state of gynecomastia;
- occurrence of epilepsy;
- appearance of mental retardation.
Inspection and diagnosis of
If a person has pigmented spots on his body, the first thing to do is to contact a dermatologist. Usually, after examination, the doctor sends the patient to other specialists - genetics, neurologist, oculist, orthopedist.
Compulsory examination should be carried out, which should consist of a detailed examination of the condition of the bones, examination of the internal organs, eyes and hearing organs.
The survey plan should include the following diagnostic methods:
- computed tomography;
- magnetic resonance imaging;
- radiography;
- carrying out ultrasound of internal organs;
- makes audiometry;
- electrochlearographic studies;
- impedance measurement;
- conducting a Weber test.
After all these studies, the doctor determines the presence of neuromedibromatosis Recklinghausen type 1, if there are the following symptoms:
- there are many spots of pigmented type with the color of coffee with milk;
- under the armpits there are small spots similar to freckles;
- presence from two neurofibres;
- there are nodules Lisha;
- has symptoms of thinning of the outer shell of tubular bones or problems with the bone structure of the wedge-like type;
- if one of the relatives has this pathology.
The presence of type 2 disease can be delivered with:
- if there are neurofibromas with plexiform type or the presence of more than two of these tumors;
- in the presence of neurinoma of the auditory nerve;
- if there is a spinal or intracranial tumor.
What can I do?
No treatment methods have been found that can completely cure Recklinghausen's disease. Typically, patients are prescribed symptomatic therapy, which consists of drugs that can normalize the metabolism and slow the process of cell division.
The treatment regimen can consist of the following drugs:
- Ketotifen;
- Fenkarol;
- Tigazon;
- Lidase;
- AEVIT.
Surgical surgical interventions are prescribed in severe cases and with significant cosmetic defects. Neurofibromas can be removed if they interfere with normal functioning or are located next to vital organs.
When the formations are removed, the formation of tumors often occurs. Almost 3-15% of cases can be prescribed radiotherapy and chemotherapy courses.
This ailment usually proceeds in chronic form. And it can be characterized by a jerky current. The most positive prognosis is given with the peripheral form of neurofibrosis.
Pigmented spots - cause to be on the alert
Sometimes deterioration can be observed due to hormonal changes in the body, as well as after the traumas and severe illnesses. Rebirth of tumors in malignant tumors is observed in 3-15% of patients.
It is impossible to completely prevent the development of pathology, but it is possible to stop its course. To do this, if you find the first symptoms, namely pigmented spots, you should immediately consult a dermatologist.
If treatment is provided in a timely manner, then serious further complications of Recklinghausen's neurofibromatosis can be prevented.
