title: [Pathogenesis and the most frequent symptoms of neurofibromatosis type 1].
abstract: This study was to evaluate pathogenesis, symptoms, clinical course and possible treatment of neurofibromatosis type 1. Neurofibromatosis type 1, von Recklinghausen's disease, is one of the phacomatoses. It belongs to the most frequent inherited diseases in human population. This disease is autosomal dominant, but new spontaneous mutation are also common. The symptoms are caused by disorders in the melanocytes and gliocytes. In ophthalmological examination Lisch nodules, café-au lait spots, neurofibromas of the lids, optic pathway gliomas and deformation of the orbit bones, can be observed. The symptoms are different, depend upon the age and demonstrate charateristic evolution through the lifetime.
authors.affiliation: Z Katedry i Kliniki Chorób Oczu Collegium Medicum w Bydgoszczy Uniwersytetu Mikołaja Kopernika w Toruniu. gcz5@wp.pl
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Czajkowski
authors.forename: Jakub
authors.initials: J
authors.lastname: Kałuzny
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Jatczak-Gaca
authors.forename: Mariusz
authors.initials: M
authors.lastname: Wysocki
mesh_terms: D003230:Conjunctival Neoplasms / Q000175:diagnosis / Q000235:genetics; D005134:Eye Neoplasms / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D020339:Optic Nerve Glioma / Q000175:diagnosis* / Q000235:genetics; D019574:Optic Nerve Neoplasms / Q000175:diagnosis / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics