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.
Cafe au lait macule ibonwe ku-Neurofibromatosis type 1 (NF-1)
Neurofibromatosis yisimo esidala izimila ohlelweni lwemizwa nasesikhunjeni. Uhlobo loku-1 luzuzwa njengefa kakhulukazi futhi lubonisa izimpawu ezifana nokuthi neurofibromas, café-au-lait spots, freckling, and optic gliomas. Ukuxilongwa kusekelwe ezimpawini zomtholampilo. Uhlobo lwesi-2, ngakolunye uhlangothi, luphawulwe ngo- bilateral vestibular schwannomas (VS) and meningiomas , nalo oluzuzwe njengefa kakhulu. Ukuphatha kubandakanya ukuqapha okuvamile kanye nokwelashwa njengoba kudingeka kuzo zombili izinhlobo ze- neurofibromatosis. 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.
Izimpawu ezijwayelekile ze- i-neurofibromatosis (Neurofibromatosis) zihlanganisa izindawo ezinsundu ngokubomvu engxenyeni enombala yeso ebizwa ngokuthi ama-Lisch nodules kanye ne-neurofibromas. I-Scoliosis (ukugoba komgogodla), ukukhubazeka kokufunda, ukuphazamiseka kokubona, ukukhubazeka kwengqondo, izindawo eziningi ze-café au lait kanye ne-epilepsy (epilepsy).
Akukho ukwelashwa okuqondile okwamanje.