Ko te Neurofibromatosis he mate o te tangata te punaha maha-maha na te rerekeetanga o te neurofibromin. Neurofibromatosis ka puta he pukupuku ki te taha o te punaha nerve ka tupu ki nga waahi katoa o te tinana. Ko neurofibromatosis tetahi o nga mate ira tino noa me te mate autosomal dominant.
Ko nga tohu noa o te neurofibromatosis ko nga waahi parauri-whero i roto i te waahanga tae o te kanohi e kiia nei ko Lisch nodules me neurofibromas. Ko te scoliosis (te kopikopiko o te tuara), te haua ako, te mate matakite, te haua hinengaro, te maha o nga waahi café au lait me te mate uruta ka haere tahi ano.
Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein, called neurofibromin, which is needed for normal function in many human cell types.
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Cafe au lait macule ka kitea i Neurofibromatosis type 1 (NF-1)
Ko te Neurofibromatosis he mate ka puta he pukupuku i roto i te punaha io me te kiri. Ko te momo 1 te nuinga o te tuku iho me te whakaatu tohu penei i te neurofibromas, café-au-lait spots, freckling, and optic gliomas. Ko te taatai i runga i nga tohu haumanu. Ko te momo 2, he tohu bilateral vestibular schwannomas (VS) and meningiomas , he mea tuku iho ano. Ko te whakahaere he aroturuki auau me te maimoatanga hauora ina hiahiatia mo nga momo neurofibromatosis e rua. Neurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. Neurofibromatosis types 1 and 2 are the most common and are distinct entities. Neurofibromatosis type 1, or von Recklinghausen disease, is an autosomal dominant disease. Neurofibromatosis type 1 presents with neurofibromas, cafe-au-lait macules, freckling, and optic gliomas. It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas (VS) and meningiomas. It has an autosomal dominant inheritance pattern. Treatment for neurofibromatosis types 1 and 2 is clinical monitoring and medical intervention when appropriate.
Ko nga tohu noa o te neurofibromatosis ko nga waahi parauri-whero i roto i te waahanga tae o te kanohi e kiia nei ko Lisch nodules me neurofibromas. Ko te scoliosis (te kopikopiko o te tuara), te haua ako, te mate matakite, te haua hinengaro, te maha o nga waahi café au lait me te mate uruta ka haere tahi ano.
Karekau he maimoatanga motuhake i tenei wa.