Today, many people have genetic pathologies that manifest themselves with various symptoms. Among them, Recklinghausen's disease (neurofibromatosis) is distinguished. This disease is characterized by damage to the skin in the form of tumor-like formations, spots, freckles in non-specific places and the manifestation of other signs. The disease is quite common among the world's population and occurs in one case out of two and a half thousand. In this case, the pathology is incurable, as a systematic treatment is carried out. Today, medicine continues to develop specific therapy, which is aimed at the complete healing of the patient.
Description and description of the problem
Recklinghausen's disease is a heterogeneous disease characterized by tumorous lesions of the skin and central nervous system. In this case, all organs and systems of the body can be involved in the pathological process. The disease is developing rapidly. The first symptoms can occur at birth, and the development of complications can occur in adulthood.
In half the cases, the pathology is inherited; in other cases, it develops as a result of spontaneous gene mutations . This disease manifests itself in the form of multiple age spots and benign neoplasms, abnormalities of bone tissue, changes in the iris of the eye, as well as tumors of the central nervous system and others. Neoplasms can appear in nerves and nerve endings.
Neurofibromatosis (ICD-10 ascribes code Q85.0 to it) is the most common disease of hereditary etiology. It was first described in the nineteenth century by many researchers, including Frederick von Recklinghausen.
Epidemiology
Neurofibromatosis in children is diagnosed equally in male and female. This pathology is the most common disease with a genetic nature. It can affect people of different nationalities and does not depend on the place of residence of a person, his diet and other factors.
The disease is inherited, in half the cases it develops due to different mutations of the gene of the seventeenth chromosome. This gene is responsible for suppressing the development of tumor processes. When type 1 neurofibromatosis develops, tumor cells are not recognized by the mutated gene, therefore they are not eliminated by the immune system, but multiply, forming large benign tumors. But in 15% of cases, these neoplasms are transformed into cancerous tumors.
Reasons for the development of pathology
The gene of the seventeenth chromosome is large, so a large number of new mutations arise in it. In 50% of cases, such mutations are inherited by descendants; in other cases, the development of new mutations is observed. All these processes have a high degree of manifestations, so the symptoms of pathology are always observed.
Doctors say that the NF-1 gene is involved in the synthesis of neurofibromin, a protein that inhibits the growth and development of tumors. Its insufficiency or absence leads to the transformation of cells into neoplasms. If the tumor cells begin to rapidly and rapidly multiply, malignant neoplasms occur. This phenomenon is observed in 15% of cases. Recklinghausen’s disease has an autosomal dominant inheritance type.
Types of disease
Tumors in this pathology can form from cells of the central or peripheral nervous system. Depending on this, in medicine it is customary to distinguish the following forms of the disease:
- The peripheral form, or type 1 neurofibromatosis, in which tumors form from peripheral NS cells.
- The central form, or type 2 disease, in which neoplasms appear from CNS cells.
Most often, the first form of pathology is diagnosed.
Symptoms and signs
Reklinghausen neurofibromatosis exhibits a variety of symptoms and signs. Among them are tumor-like neoplasms, neurofibromas, age spots, skin disorders of the nervous system and musculoskeletal system, and changes in the iris of the eyes.
Most often, the disease begins to manifest with the development of scoliosis, over time, epileptic seizures, visual impairment and learning difficulties join it. Neoplasms are usually located along the peripheral nerves, but often they are localized on the eyelids, conjunctiva, in the brain and spinal cord, abdominal cavity. This can lead to paralysis of the eye muscles, compression of the organs, impaired functionality of the cranial nerves, and so on.
Skin covering
Often, neurofibromatosis in children begins to manifest itself from birth in the form of age spots on the skin, which are flat patches of skin of different sizes and locations. The color of the spots can vary from beige to gray-blue. Usually they are located on the limbs and trunk, mucous membranes. They never disappear. The main feature of this disease is the number of age spots: with pathology, they are observed at least six in size about one and a half centimeters.
Also, one of the symptoms of the disease is the formation on the skin of freckled rashes in the armpits, groin, popliteal fossae. Freckles can appear throughout a person’s life, usually this process is affected by trauma, diaper rash, friction of clothes and so on.
Recklinghausen neurofibromatosis also manifests itself in the form of Lisha nodules, which are white spots on the iris of the eye. They can not be detected with the naked eye, they are identified only when examining an optometrist. As a person grows up, nodules begin to appear to a greater extent.
Tumor-like formations
Neurofibromas in this disease are located on the skin or inside the body in large quantities. These formations are clusters of nerve sheath cells, they have the form of nodes that are located on a thin or wide stalk, and hair can grow on the top of the nodules. The number of neurofibromas increases with age. Sometimes they can cover the whole body, they are also single. Their size can vary from a few millimeters to one meter in diameter (in 30% of cases). Practically in milestones of patients after thirty years such neoplasms are observed.
Neurofibromas often provoke an abnormal enlargement of the limbs (elephantiasis). If they are inside the body, they can compress the internal organs, leading to a violation of their functionality. In this case, a person has cough, shortness of breath, indigestion, pain, muscle paralysis. When located in the nerves of the formation, they provoke the development of muscle weakness, pain, and sensitivity disorder.
Recklinghausen syndrome also manifests itself in other tumors: astrocytomas, meningiomas, gliomas, or ependymomas. With the formation of tumors inside the skull, a person's intracranial pressure rises, muscle paresis, speech, vision and hearing impairment, as well as the psyche. Often a person develops a tumor of the adrenal gland, which provokes an increase in blood pressure. Glioma is diagnosed in 15% of cases and manifests itself in visual impairment, protrusion of the eyeball.
Disorders of the nervous system and musculoskeletal system
Neurological disorders in this disease are manifested in the form of mental disorders of varying degrees of manifestation. The most common signs of pathology are impaired intelligence, difficulty in learning to write and read, and mastering the sciences.
Often Recklinghausen's disease manifests itself in epileptic seizures, the development of depression with all the accompanying symptoms. In some cases, depression develops due to cosmetic defects that lead to deformity. A man is shy of his appearance, avoids contact with people, closes in himself.
With this pathology, an incorrect bone structure occurs:
- sphenoid bone underdevelopment;
- spinal kyphoscoliosis;
- defects in the ribs and chest;
- spondylolisthesis;
- asymmetric structure of the skull;
- underdevelopment of bone tissue, resulting in frequent fractures;
- deformation of the tubular bones, the formation of cysts on them;
- change in the facial part of the skull and the walls of the orbits.
Additional symptoms
Recklinghausen’s disease (neurofibromatosis) of the first type (where pathology is treated, will be discussed below) also exhibits other symptoms. Among its symptoms:
- violation of human growth;
- early puberty, gynecomastia;
- the formation of cysts in the lungs;
- syringomyelia;
- narrowing of the pulmonary artery;
- pneumonia;
- improper structure of the digestive tract;
- increase in blood pressure.
Recklinghausen's disease: diagnosis
Diagnostic measures were developed by the International Committee of Experts on this pathology. To make an accurate diagnosis, a person must have at least two of the following symptoms:
- More than five age spots on the body larger than five millimeters.
- Two tumor-like formations of any shape and variety.
- Freckles in the armpits and groin.
- Underdevelopment of bone tissue and sphenoid bone.
- Glioma of the optic nerve.
- At least two nodes Lisha.
- The presence of close relatives with similar symptoms.
The primary examination is carried out by a general practitioner in a medical institution. Consultation with an ophthalmologist, dermatologist, neurologist and others is possible.
There are a large number of techniques for diagnosing a disease, the choice of which depends on the location of pathological neoplasms.
Particular attention is paid to the patient's relatives due to the possible hereditary transmission of the disease. With a hereditary predisposition to the disease, a genetic examination is carried out. An amniocentesis or chorionic biopsy is also possible to determine abnormalities in a newborn baby. A person is examined periodically, as some symptoms may appear over time. The doctor draws attention to changes in the blood test for Recklinghausen's disease, which may indicate the development of pathological processes in the body. Often a test is prescribed for the study of the genes MLH1, MSH2, NF1, NF2, SPRED1.
The doctor may prescribe an MRI and radiography to determine the neoplasms in the internal organs and bones.
The doctor also differentiates the pathology with diseases such as other types of neurofibromatosis, Proteus syndrome, Klippel-Weber syndrome, disseminated lipomatosis and others. After a thorough examination, a final diagnosis is made and a treatment plan is developed.
Therapy
They treat the disease in a regular or specialized clinic. Usually, neurofibromatosis treatment is symptomatic, as the disease is considered incurable. Therapy is aimed at eliminating the symptoms of pathology and changes on the part of organs and systems.
The main therapeutic method in this case is the surgical removal of tumors. Operations are prescribed for large tumors that compress organs, disrupting their functionality. Also, Recklinghausen's disease requires surgical intervention in order to eliminate cosmetic defects during disfigurement of the human body.
Surgical intervention is required in the presence of large tumors, high blood pressure, scoliosis, impaired speech, vision and hearing, early or late puberty.
The operation can only be performed if there is a small number of neoplasms. Today, medicine is developing drugs aimed at a complete cure for this disease, but at present they are not yet used. Multiple tumors cannot be removed. If cancer is detected, neurofibromatosis treatment involves chemotherapy, surgical removal of the tumor and radiation therapy. The methods of treatment will depend on the type of cancer.
Forecast and Prevention
The prognosis for this pathology is favorable, cancer develops in rare cases. But with the prevalence of the pathological process, a person’s ability to work is significantly reduced, which can cause disability.
Since this disease is genetic, preventive measures to prevent it have not been developed. Doctors recommend that parents detect the disease as soon as possible. In medicine, it was found that about 60% of people with this pathology have a mild manifestation of symptoms in the form of age spots and several neoplasms on the skin that require a little treatment. Children with this disease remain relatively healthy, but in the future they may develop complications and negative consequences. Therefore, it is important to diagnose the pathology in time in order to ensure a happy life for the child.