Tha Neurofibromatosis na eas-òrdugh iom-fhillte ioma-shiostam daonna air adhbhrachadh le mùthadh neurofibromin. Bidh neurofibromatosis ag adhbhrachadh tumhan air an t-siostam nearbhach a dh’ fhaodas fàs an àite sam bith air a’ bhodhaig. Is e neurofibromatosis aon de na h-eas-òrdughan ginteil as cumanta agus eas-òrdugh autosomal ceannasach.
Tha comharran cumanta neurofibromatosis a’ toirt a-steach spotan donn-dearg ann am pàirt dhathte na sùla ris an canar Lisch nodules agus neurofibromas. Faodaidh scoliosis (curvature an spine), ciorramachdan ionnsachaidh, eas-òrdughan lèirsinn, ciorraman inntinn, ioma-spotan cafaidh au lait agus tinneas tuiteamach a bhith an cois cuideachd.
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 air fhaicinn ann an Neurofibromatosis type 1 (NF-1)
Tha Neurofibromatosis na chumha a dh’ adhbhraicheas tumhan san t-siostam nearbhach agus craiceann. Tha seòrsa 1 air a shealbhachadh gu mòr agus a’ nochdadh comharraidhean mar neurofibromas, café-au-lait spots, freckling, and optic gliomas. Tha Diagnosis stèidhichte air soidhnichean clionaigeach. Tha seòrsa 2, air an làimh eile, air a chomharrachadh le bilateral vestibular schwannomas (VS) and meningiomas , cuideachd air a shealbhachadh gu mòr. Tha riaghladh a’ toirt a-steach sgrùdadh cunbhalach agus làimhseachadh meidigeach mar a dh’ fheumar airson an dà sheòrsa 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.
Tha comharran cumanta neurofibromatosis a’ toirt a-steach spotan donn-dearg ann am pàirt dhathte na sùla ris an canar Lisch nodules agus neurofibromas. Faodaidh scoliosis (curvature an spine), ciorramachdan ionnsachaidh, eas-òrdughan lèirsinn, ciorraman inntinn, ioma-spotan cafaidh au lait agus tinneas tuiteamach a bhith an cois cuideachd.
Chan eil làimhseachadh sònraichte ann fhathast.