Diagnosis of neurofibromatosis


Neurofibromatosis - a group of inherited diseases with characteristic skin changes in the nervous system, often in combination with abnormalities in other organs and systems.
Currently are 6 types of neurofibromatosis, of which the greatest importance is neurofibromatosis type I (von Recklinghausen disease).
The disease is caused by a mutation of a gene - "NF1".

Modern science suggests that the gene "NF1"It belongs to the genes that suppress the development of tumors. Reduction or absence of neyrofibromina protein production is controlled by a gene mutation "NF1", leads to the degeneration of cells.

Neurofibromatosis type I and its symptoms

Clinical diagnosis of neurofibromatosis type I is based on the diagnostic criteria recommended by the International Committee of Experts on Neurofibromatosis.

So, we list the diagnostic criteria (for diagnosis, you must have at least 2 criteria):
  • Diagnosis of neurofibromatosis6 or more spots on skin color "coffee with milk", each in a diameter greater than 5 mm in a child and more than 15 mm in the adult;
  • 2 or more neurofibromas (benign tumors of peripheral nerve) or 1 plexiform neurofibroma;
  • enhanced stain in the underarm and groin areas;
  • Glioma (cancer) of the optic nerve;
  • 2 or more Lisch nodules - painted hamartomas of the iris;
  • expressed bone abnormalities, e.g., in the form of primary bone dysplasia;
  • close relative diagnosed with neurofibromatosis type I (mother, father, brother, sister, child).

In patients with neurofibromatosis type I observed an increased risk of malignant tumors: neuroblastoma, gangliogliomy, sarcoma, leukemia, Wilms' tumor.

From birth or first years of life mayThere are some signs of neurofibromatosis type I, such as large spots, plexiform neurofibromas, skeletal dysplasia. Other symptoms may occur much later (for 5-15 years). The degree of severity of clinical manifestations, course and speed of progression of neurofibromatosis type I in different patients vary and fluctuate widely. Currently it not found what caused these differences.

Neurofibromas are the mostpronounced manifestation of Recklinghausen's disease, their number sometimes reaches several thousand; Some neurofibromas can be enormous, weighing more than 10 kg. These cosmetic defects are usually most concerned about patients, even those with systemic diseases. In addition, neurofibromas are associated with an increased risk of malignancy (20% of cases, according to our data).

With the localization in the abdominal cavity, in the orbit they lead to dysfunction of the adjacent organs.

From time to time growing number and sizeneurofibromas in response to different stimuli, among which the leading position occupied by hormonal changes the body: adolescence, during pregnancy or after childbirth, as well as trauma or severe illness. Very often contribute to the growth of neurofibromas surgery, some beauty treatments, physiotherapy treatments (eg massage, warming up). But often the disease progresses and the background of the seeming well-being.

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