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 በ Neurofibromatosis type 1 (NF-1) ውስጥ ታይቷል
Neurofibromatosis በነርቭ ሥርዓት እና በቆዳ ላይ ቱማር የሚያመጣ በሽታ ነው። ዓይነት 1 በዘር የሚተላለፍ ሲሆን እንደ neurofibromas (ኒውሮፊብሮማዎች), café-au-lait spots (ካፌ-ኦ-ላይት ቦታዎች), freckling (ተለዋዋጭ ቦታዎች) እና optic gliomas (ኦፕቲክ ጊሎማዎች) ያሉ ምልክቶች ይታያሉ። ምርመራው በክሊኒካዊ ምልክቶች ላይ የተመሰረተ ነው። ዓይነት 2 በበኩሉ በ bilateral vestibular schwannomas (ሁለት በሆነ ቭስቲቡላር ሽዋኖማዎች) እና meningiomas (ሜኒንጂዎማዎች) ምልክት የተደረገበት ሲሆን በዋናነትም በዘር የሚተላለፍ ነው። አስተዳደር ለሁለቱም ዓይነት Neurofibromatosis እንደ አስፈላጊነቱ መደበኛ ክትትል እና ሕክምናን ያካትታል። 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.
የተለመዱ የኒውሮፊብሮማቶሲስ (neurofibromatosis) ምልክቶች ሊሽ ኖዱልስ (Lisch nodules) እና ኒውሮፊብሮማስ (neurofibromas) በአይን ላይ ቡናማ-ቀይ ነጠብጣቦችን (brown‑red spots) ያካትታሉ። ስኮሊዎሲስ (scoliosis) (የአከርካሪ አጥንት መዞር)፣ የመማር እክል (learning difficulties)፣ የአይን መታወክ (visual problems)፣ የአእምሮ እክል (intellectual disability)፣ በርካታ ካፌ-ኦ-ላይት (café au lait) ነጠብጣቦች እና የሚጥል በሽታ (epilepsy) አብሮ ሊመጣ ይችላል።
እስካሁን ድረስ ምንም የተለየ ሕክምና (specific treatment) የለም.