Tha Neurofibromatosis na eas-òrdugh ioma‑shiostam daonna iom‑fhillte air adhbhrachadh le mùthadh neurofibromin. Bidh neurofibromatosis ag adhbhrachadh tumhan air an t‑siostam nearbhach a dh’ fhaodas fàs air àite sam bith den 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 spiona), ciorramachdan ionnsachaidh, eas‑òrdughan lèirsinn, ciorraman inntinn, ioma‑spotan caféidh 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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Tha macul café au lait ri fhaicinn ann an Neurofibromatosis type 1 (NF‑1).
Tha Neurofibromatosis na cumha a bhrosnaicheas tumhan san t-siostam nearbhach agus craicinn. Tha seòrsa 1 air a shealbhachadh gu mòr agus a’ nochdadh comharraidhean mar neurofibromas, speuran café‑au‑lait, freckling, agus optic gliomas. Tha an diagnosadh stèidhichte air soidhnean clionaigeach. Tha seòrsa 2, air an làimh eile, air a chomharrachadh le bilateral vestibular schwannomas (VS) agus meningiomas, agus tha e air a shealbhachadh gu mòr cuideachd. Tha an riaghladh a’ toirt a-steach sgrùdadh cunbhalach agus làimhseachadh meidigeach mar a dh’ fheumar airson an dà sheòrsa de 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 spiona), ciorramachdan ionnsachaidh, eas‑òrdughan lèirsinn, ciorraman inntinn, ioma‑spotan caféidh au lait, agus tinneas tuiteamach a bhith an cois cuideachd.
Chan eil làimhseachadh sònraichte ann fhathast.