Neurofibromatosis - Nevrofibromatoza
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Cafe au lait macule viden v Neurofibromatosis type 1 (NF-1)
References
Neurofibromatosis je stanje, ki povzroča tumorje v živčnem sistemu in koži. Tip 1 je podedovan dominantno in kaže simptome, kot je neurofibromas, café-au-lait spots, freckling, and optic gliomas. Diagnoza temelji na kliničnih znakih. Tip 2 pa je označen z bilateral vestibular schwannomas (VS) and meningiomas , prav tako se deduje dominantno. Zdravljenje vključuje redno spremljanje in zdravljenje, če je potrebno za obe vrsti 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.
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.
Pogosti simptomi nevrofibromatoza (neurofibromatosis) vključujejo rjavkasto-rdeče lise v obarvanem delu očesa, imenovane Lischevi noduli in nevrofibromi. Spremljajo ga lahko tudi skolioza (ukrivljenost hrbtenice), učne težave, motnje vida, duševne motnje, večkratne pike café au lait in epilepsija.
Zaenkrat še ni posebnega zdravljenja.