Neurofibromatosis - a group of inherited diseases with characteristic changes in the skin, the nervous system, often in combination with abnormalities in other organs and systems.
At present, secrete 6 neurofibromatosis type from which the greatest importance are neurofibromatosis type I (Recklinghausen disease) and neurofibromatosis type II (neurofibromatosis bilateral neuromas VIII pair of cranial nerves).
Causes
The disease is caused by a mutation of the gene "NF1" in 17q-chromosome.
Men and women are affected equally often.
Approximately half of the cases - a result of new mutations. There is an assumption that the "NF1" gene is part of a group of genes that suppress the growth of tumors. Reduction or absence of protein neyrofibromina, whose output is controlled by "NF1" gene leads to degeneration of cells.
manifestations
Manifestations neurofibromatosis type I
Diagnostic criteria (for diagnosis, you must have at least two criteria):
- 6 or more spots on the skin color "coffee with milk", each in diameter more than 5 mm in a child and more than 15 mm in the adult;
- 2 or more neurofibromas (any), or one plexiform neurofibroma;
- enhanced stain in the underarm and groin areas;
- glioma of the optic nerve;
- 2 or more nodules Lisha - colored iris hamartomas;
- Expressed bone abnormality in a primary bone dysplasia, thinning of cortical long bones with or without pseudoarthrosis;
- The closest relative diagnosed with neurofibromatosis type I (mother, father, brother, sister, child).
Patients with neurofibromatosis type I observed an increased risk of malignant tumors: neuroblastoma gangliogliomy, sarcoma, leukemia, Wilm's tumor.
A feature of the disease is a specific sequence of symptoms in Depending on the age of the patient, making it difficult to diagnose neurofibromatosis type I in the early childhood. From birth or first years of life may be only a few signs of neurofibromatosis type I (large spots, plexiform neurofibromas, the defeat of the skeleton). Other symptoms may occur much later (for 5-15 years).
Neurofibromas are most pronounced manifestation Recklinghausen disease, their number sometimes reaches a few thousand; plexiform neurofibromas may be gigantic, weighing more than 10 kg. These cosmetic defects are usually most concerned about patients. In addition, neurofibromas are associated with an increased risk of degeneration into a malignant tumor. When positioned in the chest, in the abdomen, in the orbit they lead to dysfunction of the adjacent organs.
From time to time growing number and size of neurofibromas in response to different stimuli, among which the leading place: hormonal changes the body, adolescence, during pregnancy or after childbirth, as well as trauma or severe disease. Very often contribute to the growth of neurofibromas surgery, some cosmetic treatments, physiotherapy treatments (eg massage, warming up). But often the disease progresses and against the backdrop of apparent wellbeing.
Photo: site of the Department of dermatology Tomsk Military Medical Institute
Manifestations neurofibromatosis type II
Diagnostic criteria:
- bilateral neurinoma VIII pair of cranial nerves (according Tomography)
OR:
- closest relative diagnosed with neurofibromatosis type II (mother, father, brother, sister, child), in conjunction with:
- neuroma sided VIII pair of cranial nerves
OR:
2 of the following feature:
- neurofibroma
- meningoblastoma
- gliomas (astrocytoma, ependymoma)
- schwannoma (in t. h. and spinal)
- juvenile posterior subcapsular cataract.
Concomitant symptoms of neurofibromatosis type II (but not diagnostic criteria) seizures, skin manifestations (spot color "coffee with milk", cutaneous neurofibromas), multiple spinal tumors (ependymoma, schwannoma, meningioma).
neurofibromatosis treatment
TSNIKVI Health Ministry offered the following regimen of neurofibromatosis type I: ketotifen appoint 2-4 mg of short courses for two months. In order to avoid complications in the first two weeks of dosing is recommended to apply in parallel fenkarol of 10-25 mg three times a day.
As the drug, reducing the rate of cell division, in a dose tigazon used at least 1 mg per kilogram of body weight or Aevitum to 600 000 IU considering portability. Also courses used lidasa (mukopolisaharidaza) at a dose of 32-64 IU, depending on age intramuscularly, every other day, a course of 30 injections (L. BUT. Makurdumyan, attending physician, №10, 2001)
Radical treatment of neurofibromatosis is not yet proposed.
