NEUROFIBROMATOSIS AND ITS TREATMENT

 

The disease is genetic in nature, inherited autosomal. The gene is localized on chromosome 17. The risk of inheriting pathology from one parent is 50%. The USA Best Doctors provide the facilities in USA.

Signs of neurofibromatosis are multiple, which complicates timely diagnosis. An important symptom for the diagnosis of neurofibromatosis is the appearance of Lish nodules. Lichen nodules are whitish spots on the iris of the eye that can be visualized during an ophthalmologic examination with a special tool. The pathology is not accompanied by painful symptoms and is not determined without the use of special devices.

Types of neurofibromatosis:

Neurofibromatosis type 1. Also called "Recklinghausen's neurofibromatosis". A classic type of disease that occurs every 3-4 thousand newborns. The cause is damage to the "NF1" gene on chromosome 17. NF1 is one of a number of genes responsible for neutralizing and destroying tumors. This type of disease affects both men and women in the same proportion. Neurofibromatosis type 1 is accompanied by pigment spots on the skin, Lish nodules on the iris and bone abnormalities. This type of disease is considered the most common, occurring in 90% of all cases.

Neurofibromatosis type 2. It turns out, like type 1, but the cause of the disease is a gene abnormality on chromosome 22. The pathology is accompanied by the development of neurin - mobile and painful tumors. Bilateral auditory nerve neurinoma can lead to hearing loss. With neurofibromatosis type 2 pigment spots on the skin are not diagnosed. Benign tumors have a high risk of transforming into malignant neoplasms. Neurofibromatosis type 2 is diagnosed 10 times less often than pathology of the first type.

Neurofibromatosis type 3. It is characterized by a large number of neurofibromas that provoke the accelerated development of optic glioma and neurolemma. The disease affects young people aged 30 years. A characteristic feature of neurofibromatosis of the third type is the appearance of neurofibromas on the palms.

Neurofibromatosis type 4-7. Type 4 disease is characterized by multiple skin lesions of neurofibromas. There is a high risk of developing optic glioma and neurolemma. At 5 types of pathology emergence of pigment spots, and also neurofibroma is characteristic. Tumors reach large sizes, burden the skin, cause noticeable asymmetry. The sixth type of neurofibromatosis is classified only by visual manifestations: pigment spots appear on the skin surface. In the seventh type of neurofibromatosis only neurofibromas develop, hyperpigmentation of the skin is not observed.

Causes of neurofibromatosis

The main reason for the development of neurofibromatosis in newborns is a genetic predisposition.

If the damaged gene is present in only one parent, the probability of disease is at least 50%. With the defeat of the gene in both parents, the probability of developing the disease in the newborn increases to 80%.

The type and severity of symptoms in neurofibromatosis is influenced by the degree of gene expression. Despite the hereditary nature of the disease, there are cases when the disease developed due to a sudden mutation in a gene during conception.

Symptoms of neurofibromatosis

The disease has no clear symptoms, may manifest itself differently in each individual case. The danger of neurofibromatosis is the variety of symptoms that affect different body systems and blur the clinical picture. Experts note that visual impairment is a characteristic feature of neurofibromatosis type 1, and the occurrence of hearing disorders develops in neurofibromatosis type 2.

Signs characteristic of neurofibromatosis:

Hyperpigmentation. The visual symptom of neurofibromatosis is the appearance and spread of pigment spots on the skin. Light brown spots appear at birth or in the first years of life. If there are more than 6 pigment spots in unusual places (under the armpits, groin, neck) there is a suspicion of the disease. Pigment spots are the primary sign of the disease.

Tumors on the skin. Neurofibromas (tumors) appear on the patient's body during puberty. With age or during pregnancy, neurofibromas can transform into malignant tumors.

Nervous System. The disease affects the central nervous system, which provokes a delay in child development. Children with neurofibromatosis are prone to perceptual disorders, suffer from hyperactivity. Approximately 6% of children are diagnosed with mental retardation. With neurofibromatosis of the skin, children may develop a tumor of the optic nerve, which provokes further loss of vision.

Vision. At ophthalmologic inspection by means of the special tool pigment spots on an iris of an eye are diagnosed. The spots have a light beige color, they are less pronounced than on the skin. Damage to the eyes with pigment spots in neurofibromatosis is not life-threatening, but is an alarming signal for further examination.

Musculoskeletal system. Neurofibromatosis can cause deformities of bones and joints. Most bone pathologies are congenital defects, but disorders of the spine are manifested during puberty.

Endocrine system. Neurofibromatosis can provoke the development of thyroid tumors.

Cardiovascular system. Patients diagnosed with neurofibromatosis develop hypertension, stenosis.

Diagnosis of neurofibromatosis

The reason for the diagnosis of neurofibromatosis type 1 is the presence of more than 6 spots of light brown color on the skin. They occur during fetal development and during the first months of life. A characteristic feature of the disease are pigment spots located in the groin area, under the armpits and on the extremities.

An important reason for the examination is the presence of subcutaneous neurofibromas, spinal schwannoma and clouding of the lens. Before prescribing examinations using diagnostic devices, the doctor collects a medical history, examines visible signs (pigment spots on the skin, tumors). Neurological examination is mandatory to assess coordination.

The following diagnostic methods can be assigned for a comprehensive examination:

MRI or CT. Magnetic resonance imaging and computed tomography are used to visualize the spine, internal organs and brain. These methods determine the size and location of tumors as accurately as possible.

X-ray. Radiography of the spine is performed to determine the degree of scoliosis.

Treatment of neurofibromatosis

We use tomotherapy - a method that involves the exact effect of ionizing radiation on the location of the tumor. Modern devices of radiation therapy do not harm the surrounding healthy tissues. The best doctors in USA provide the facilities in USA.

Radiation therapy

Treatment of neurofibromatosis involves regular monitoring of the patient's condition, detection and removal of life-threatening tumors. In the treatment of multiple neurofibromas, radiation therapy is prescribed.

Chemotherapy involves the administration or administration of drugs that control the symptoms of the disease and help normalize metabolic processes. During treatment, the patient should be closely monitored by a geneticist, ophthalmologist and neurologist.

Surgical treatment of tumors and removal of Lish nodules by cryodestruction is often prescribed. Cryodestruction is a local method of removing tumors under the influence of temperature with a minus sign. Surgery for neurofibromatosis is necessary to alleviate the patient's condition, as well as to eliminate cosmetic defects.

Laser surgery is an effective treatment for neurofibromas. The method involves burning a small tumor with the most accurate effect of a light beam on it.

After treatment for neurofibromatosis, especially if there is a lesion of the musculoskeletal or central nervous system, patients need rehabilitation. The procedures are aimed at returning the patient to a normal lifestyle. At disturbances of work of a backbone to the patient medical physical training is appointed. Accordingly, in case of neurological disorders, patients should be checked from time to time by a specialist, tested and communicate with a psychologist.

Treatment protocols

To learn about international treatment protocols from ESMO and NCCN, you can follow the link (register, download a PDF file) and learn more about the treatment of neurofibromatosis:

Neurofibromatosis is an inherited disease. The only prevention of pathology is medical and genetic counseling when planning a pregnancy (applies to those couples whose families have cases of neurofibromatosis).

Prognosis in neurofibromatosis

At complex treatment and regular inspections patients have the favorable forecast. In the absence of pathologies of the musculoskeletal system and developmental problems, the patient has a satisfactory level of efficiency. With neurofibromatosis type 1, tumors can be transformed into malignant neoplasms. It is worth knowing that due to late diagnosis and untimely treatment, the pathology can shorten the patient's life.