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.
Neurofibromatosis በነርቭ ሥርዓት እና በቆዳ ላይ እጢ የሚያመጣ በሽታ ነው። ዓይነት 1 በዘር የሚተላለፍ ሲሆን እንደ neurofibromas, café-au-lait spots, freckling, and optic gliomas ያሉ ምልክቶች ይታያል። ምርመራው በክሊኒካዊ ምልክቶች ላይ የተመሰረተ ነው. ዓይነት 2 በበኩሉ በ bilateral vestibular schwannomas (VS) and meningiomas 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 የ ኒውሮፊብሮማቶሲስ (neurofibromatosis) ምልክቶች ሊሽ ኖዱልስ (Lisch nodules) እና ኒውሮፊብሮማዎች (neurofibromas) በሚባሉት የዓይን ክፍል ውስጥ ቡናማ-ቀይ ነጠብጣቦችን ያካትታሉ። ስኮሊዎሲስ (የአከርካሪ አጥንት መዞር)፣ የመማር እክል፣ የአይን መታወክ፣ የአእምሮ እክል፣ በርካታ ካፌ ኦውላይት (café au lait) ነጠብጣቦች እና የሚጥል በሽታም አብሮ ሊመጣ ይችላል።
እስካሁን ድረስ ምንም የተለየ ሕክምና የለም.