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. At the same time, the pathology is incurable; systematic treatment is carried out as a therapy. Today, medicine continues to develop a specific therapy that is aimed at the complete healing of the patient.
Characteristics and description of the problem
Recklinghausen's disease is a heterogeneous disease characterized by tumor 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 develops rapidly. The first symptoms may appear at birth, and the development of complications may occur in adulthood.
In half of 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, bone tissue abnormalities, changes in the iris of the eye, as well as tumors of the central nervous system and other things. Neoplasms can appear in nerves and nerve endings.
Neurofibromatosis (ICD-10 code Q85.0) is the most common disease of hereditary etiology. It was first described in the nineteenth century by many researchers, including Friedrich von Recklinghausen.
Epidemiology
Neurofibromatosis in children is diagnosed equally in males and females. 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 of 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 neurofibromatosis type 1 develops, tumor cells are not recognized by the mutated gene, so they are not eliminated by the immune system, but multiply, forming large benign tumors. But in 15% of cases, these neoplasms transform into cancerous tumors.
Causes for the development of pathology
The gene of the seventeenth chromosome is large, so init generates a large number of new mutations. 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 deficiency or absence leads to the transformation of cells into neoplasms. If tumor cells begin to multiply rapidly and rapidly, malignant neoplasms occur. This phenomenon is observed in 15% of cases. Has Recklinghausen's disease, an autosomal dominant inheritance pattern.
Disease types
Tumors in this pathology can be formed from cells of the central or peripheral nervous system. Depending on this, it is customary in medicine to distinguish the following forms of the disease:
- Peripheral form, or type 1 neurofibromatosis, in which tumors form from peripheral NS cells.
- Central form, or type 2 disease, in which neoplasms appear from the cells of the central nervous system.
The first form of pathology is most often diagnosed.
Symptoms and signs
Recklinghausen's neurofibromatosis exhibits a variety of symptoms and signs. Among them, tumor-like neoplasms, neurofibromas, age spots of the skin, disorders of the nervous system and the musculoskeletal system, changes in the iris of the eyes are noted.
Most common diseasebegins to manifest itself with the development of scoliosis, over time, epileptic seizures, visual impairment and learning difficulties join it. Neoplasms are usually located along the course of peripheral nerves, but often they are localized on the eyelids, conjunctiva, in the brain and spinal cord, and the abdominal cavity. This can lead to paralysis of the eye muscles, squeezing of organs, dysfunction of the cranial nerves, and so on.
Skin
Often, neurofibromatosis in children begins to appear from birth in the form of age spots on the skin, which are flat areas 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: in pathology there are at least six of them, about one and a half centimeters in size.
Also one of the symptoms of the disease is the formation of freckled rashes on the skin in the armpits, groin, popliteal fossae. Freckles can appear throughout a person's life, usually this process is influenced by injuries, diaper rash, rubbing clothes, and so on.
Recklinghausen's neurofibromatosis also manifests itself in the form of Lisch nodules, which are white pigment spots on the iris of the eyes. They cannot be detected with the naked eye, they are detected only when viewed by an ophthalmologist. As a person grows upnodules begin to show up more.
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 look like knots that are located on a thin or wide stalk, hair can grow on the top of the nodules. The number of neurofibromas increases with age. Sometimes they can cover the entire body, they are also solitary. Their size can vary from a few millimeters to one meter in diameter (in 30% of cases). Almost all patients in their thirties have such neoplasms.
Neurofibromas often provoke 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. At the same time, a person has cough, shortness of breath, indigestion, pain syndrome, muscle paralysis. When located in the nerves, the formations provoke the development of muscle weakness, pain, and sensitivity disorders.
Recklinghausen's syndrome is also manifested by other tumors: astrocytomas, meningiomas, gliomas or ependymomas. When tumors form inside the skull, intracranial pressure increases in a person, muscle paresis, speech, vision and hearing disorders, as well as mental disorders occur. Often a person develops a tumor of the adrenal glands, which provokes an increase in blood pressure. gliomadiagnosed 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 intellectual impairment, difficulty in learning to write and read, and mastering the sciences.
Recklinghausen's disease often manifests itself in epileptic seizures, the development of depression with all the accompanying symptoms. In some cases, depressions develop due to cosmetic defects that lead to deformity. A person is embarrassed by his appearance, avoids contact with people, withdraws into himself.
With this pathology, an abnormal structure of the bones occurs:
- underdevelopment of the sphenoid bone;
- kyphoscoliosis of the spine;
- defects in the ribs and chest;
- spondylolisthesis;
- asymmetric skull structure;
- underdevelopment of bone tissue, resulting in frequent fractures;
- deformation of tubular bones, formation of cysts on them;
- changing the facial part of the skull and the walls of the orbits.
Additional symptoms
Recklinghausen's disease (neurofibromatosis) of the first type (where the pathology is treated, will be discussed below) shows other symptoms. Her signs include:
- human growth disorder;
- early puberty, gynecomastia;
- formation of cysts in the lungs;
- syringomyelia;
- narrowing of the pulmonary artery;
- pneumonia;
- improper structure of the digestive tract;
- increased blood pressure.
Recklinghausen's disease: diagnosis
Diagnostic measures were developed by the International Committee of Experts on this pathology. For 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 on armpits and groin.
- Underdevelopment of bone tissue and sphenoid bone.
- Optic nerve glioma.
- At least two Lisch knots.
- Having close relatives with similar symptoms.
The primary examination is carried out by a general practitioner in a medical institution. It is possible to consult an ophthalmologist, dermatologist, neurologist and others.
There are a large number of methods for diagnosing a disease, the choice of which depends on the location of pathological neoplasms.
Particular attention is paid to the relatives of the patient due to the possible hereditary transmission of the disease. With a hereditary predisposition to the disease, a genetic examination is carried out. It is also possible to perform an amniocentesis or chorionic biopsy to determine abnormalities in a newborn baby. Examination of a person is carried out periodically, as some symptoms may appear over time. The doctor draws attention tochanges in the blood test in Recklinghausen's disease, which may indicate the development of pathological processes in the body. A test is often prescribed to study the genes MLH1, MSH2, NF1, NF2, SPRED1.
The doctor may order an MRI and x-rays to determine tumors in the internal organs and bones.
Also, the doctor differentiates pathology with 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
The disease is treated in a regular or specialized clinic. Usually, neurofibromatosis treatment involves symptomatic treatment, since the disease is considered incurable. Therapy is aimed at eliminating the symptoms of pathology and changes in organs and systems.
The main therapeutic method in this case is the surgical removal of neoplasms. Operations are prescribed for large tumors that compress organs, violating their functionality. Also, Recklinghausen's disease requires surgical intervention to eliminate cosmetic defects in the disfigurement of the human body.
Surgery required for large tumors, high blood pressure, scoliosis, speech, vision and hearing disorders, early or late puberty.
The operation can be performed only in the presence of a small number of neoplasms. Today in medicine goesthe development of drugs aimed at a complete cure for this disease, but at present they are not yet used. Multiple tumors cannot be removed. When cancerous neoplasms are detected, neurofibromatosis is treated with chemotherapy, surgical removal of the tumor, and radiation therapy. Treatment options 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, the work capacity of a person is significantly reduced, which can cause disability.
Since this disease is genetic, no preventive measures have been developed to prevent it. Doctors recommend that parents detect the disease as early as possible. In medicine, it has been established 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 little treatment. Children with this disease remain relatively he althy, but in the future they may develop complications and negative consequences. Therefore, it is important to diagnose pathology in time to ensure a happy life for the child.
