The disease is caused by mutations in the gene called "NF1" in 17q-chromosome. Men and women are affected equally often. Approximately half of the cases - a result of new mutations.
The disease is characterized by progressivecurrent, high rate of complications, including leading to death (the development of cardio-respiratory failure due to pronounced skeletal abnormalities, malignant degeneration of neurofibromas (nerve tumors), and others.).
The mechanism of development of clinical manifestations is unknown. There is an assumption that "nf 1" gene is part of a group of genes that suppress tumor growth.
On the development of neurofibromas, little is known. From time to time their growing number and size in response to different stimuli, among which occupy a leading position:
- hormonal changes the body,
- adolescence (puberty)
- during pregnancy or after childbirth,
- severe somatic disease.
On the treatment of neurofibromatosis
With the expansion of the range of offered businessmedical and cosmetic services the number of appeals patients increased significantly, pointing to the emergence of new tumors (neurofibromas, neuromas, schwannomas) after the so-called iatrogenic interventions. It is the removal of tumors for diagnostic or therapeutic purposes by various methods, including a surgical excision.
The main objective of researchis to develop methods of pathogenetic treatment of neurofibromatosis type I, allowing to contain the emergence of new and growth of existing tumors and to prevent the development of complications.
Currently, treatment of this disease,both abroad and methods used in Russia symptomatic therapy, such as surgical removal of tumors or kyphoscoliosis correction neurofibromas radiotherapy of internal organs. Furthermore, Western scientists have focused on the possibility of etiologic treatment, i.e. genetic engineering. Especially far this trend has progressed since the discovery of the mutant gene and decrypt its primary product - neyrofibromina in 1990; on scientific research related to this problem, the huge funds are allocated annually.