Neurofibromatosis type I – review of the clinical-genetic, diagnostic and therapeutic aspects and analysis of a bulgarian pediatric population of 40 children. Рart I.
Сlinical-genetic, diagnostic and therapeutic studies
Keywords:
neurocutaneous syndrome, neurofibromatosis type 1, café-au-lait spots, skin lesions, tumors, optical gliomasAbstract
Neurofibromatosis type 1 is an autosomal-dominant disease belonging to neurocutaneous syndromes – a group of rare hereditary diseases caused by mutations in tumor suppressor genes that regulate migration, differentiation and cell signaling. As a result, multiple tumors develop in structures of ectodermal origin – skin, peripheral and central nervous system, eyes, etc. There are 8 types of neurofibromatosis known and described.
The most frequent type is neurofibromatosis type 1 (NF1, Recklinghausen's disease), also known as „peripheral neurofibromatosis” associated with mutation in a gene in the 17th chromosome and characterized by skin pigmentation, multiple tumors in the central and peripheral nervous system, cerebrovascular changes and internal organ damage. Neurofibromatosis type 2 (NF2), also referred to as „central neurofibromatosis”, is associated with mutations in a gene in the 22 chromosome, and the most typical manifestation of the disease is bilateral schwannomas (neuronoma) of the vestibular nerve. The other subtypes are much rarer.
The purposes of this publication are to provide a detailed review of the clinical aspects and analysis of the most up-to-date genetic and genotype-phenotype data, as well as the possibilities for diagnosis and treatment of NF1, and to present and analyze the pediatric population of 40 Bulgarian children with a confirmed diagnosis of NF 1, based on detailed clinical, genetic, neuroimaging methods. To date, there is no similar study conducted in Bulgaria on such a number of patients, which we believe the current material will contribute to a better knowledge of the disease.
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