Neurofibromatosis is a hereditary disease that is often referred to as Recklinghausen's disease or multiple neurinomatosis.
Neurofibromatosis is a genetic disease that has an autosomal dominant type of heredity, characterized by the formation of multiple benign tumors - neurofibroms, more often on the skin and mucous membranes, and manifested by a complex of neurological, psychological and hormonal disorders.
Currently, there are 6 types of neurofibromatosis, of which only two are of clinical significance - type 1 neurofibromatosis and type 2 neurofibromatosis.
Type 2 neurofibromatosis occurs less frequently, and its main symptoms are bilateral illness of the auditory nerve, and, in addition, the simultaneous presence of such tumors as meningioma, glioma, schwannoma, as well as juvenile posterior cystitis.
Clinical picture of Recklinghausen's disease (type 1 neurofibromatosis)
The severity of the clinical picture is largely determined by the size and localization of benign tumors. The main are skin and neurological manifestations, but internal organs, bones, eyes, glands of internal secretion can be affected.
The main symptoms of neurofibromatosis
- The first manifestations are the appearance on the skin of characteristic patches with a yellowish-brown tint ("coffee with milk"). They arise even in the period of newborn, have a smooth surface, plural. Also, pigmented spots in neurofibromatosis can occur on the retina of the eye, which leads to visual impairment in the patient (retinal facmokosis).
- Neurofibromy - benign tumor nodes, appearing on the skin, mucous membranes along the nerve trunks. Usually for the first time arise in adolescence or during the late childhood. They are located in the subcutaneous tissue, have a mild consistency, the color most often coincides with the color of the skin. Their size and amount can vary greatly, neurofibromy tends to increase over time. So-called plexiform neurofibromy can occur - they have an elongated shape, so literally hanging from the skin of the patient. In places of appearance of a neurofibrom may be pain or loss of sensitivity.
- Symptoms of central nervous system lesion. Localization of tumors within the skull may develop epileptic seizures, speech disorders. Sometimes sufferedfunktsii cranial nerves - more often an eye, auditory or trigeminal nerve. There are headaches, neuralgia, decreased visual acuity and vision, exophthalmos. The compression of the roots of the spinal nerves can lead to paresis or paralysis, loss of sensitivity.
- Mental disorders - patients are usually prone to depression, apathy, they decrease the level of intelligence, there is a decrease in criticality towards themselves and others. Children who suffer from neurofibromatosis tend to lag behind their peers in terms of mental development.
- Defeat of the bone system. Develops osteodystrophy - a metabolic disorder in the bone tissue, replacing it with fibrous tissue. The spine, due to degenerative changes in it, is distorted to the right or left side with the increase of natural thoracic kyphosis - there is a so-called kyphoscoliosis of the spine. Other manifestations of defeat of the bone skeleton may be hypoplasia of the ribs, subperiosteal cysts, deformation of the jaws and bones of the solid palate, splitting of the spine - spina bifida.
- Encountered fibromatosis of internal organs with the development of a clinical picture of violation of their work. If the tumor is localized in the mediastinum, pain may occur in the heart area, a violation of the heart rhythm. When compressing the respiratory tract, respiratory function affects.
- Endocrine disorders. There may be pheochromocytoma (benign tumor of the adrenal gland), acromegaly, diabetes, insufficiency of the parathyroid and thyroid glands, decrease in the production of sex hormones.
- Lymphatic drainage disturbances when compressed by neurofibroma of lymphatic vessels, up to the development of a clinical picture of elephant.
- Disorders of the gastrointestinal tract. The finding of tumorous nodes in the stomach and intestinal cavity may be manifested by bleeding or intestinal obstruction.
- Defeat of the eyes - in the iris, visible only in the ophthalmoscopy of education pin-shaped forms, they are also called nodes Lesos. They usually occur in patients older than 20 years.
Treatment of neurofibromatosis
Treatment is usually symptomatic. Some medicines may be used, in particular, to reduce the rate of cell division.
According to the testimony (with compression of vital organs, the pain of tumorous nodes, etc.) surgical removal of a neurofibrom or laser excision is possible.
In tumors localized in internal organs, radiotherapy may be used.
Cure neurofibromatosis is completely impossible, but the prognosis for life is more favorable. The prognosis may be aggravated by the central forms of Reclinhauzen's disease, which occur with lesions of the spinal cord and brain, or with malignant degeneration of peripheral tumors.