Neurofibromatosis jẹ iṣọn-alọ ọkan pupọ ti eto eniyan ti o fa nipasẹ iyipada ti neurofibromin. Neurofibromatosis fa awọn èèmọ pẹlu eto aifọkanbalẹ eyiti o le dagba nibikibi lori ara. Neurofibromatosis jẹ ọkan ninu awọn rudurudu jiini ti o wọpọ julọ ati rudurudu ti o ni agbara autosomal.
Awọn aami aiṣan ti o wọpọ ti neurofibromatosis pẹlu awọn aaye pupa brownish-pupa ni apakan awọ ti oju ti a npe ni Lisch nodules ati neurofibromas. Scoliosis (ìsépo ti ọpa ẹhin), awọn ailera ikẹkọ, awọn rudurudu ojuran, ailera ọpọlọ, ọpọlọpọ kafe au lait spots ati warapa le tun wa pẹlu.
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.
☆ Ninu awọn abajade 2022 Stiftung Warentest lati Jẹmánì, itẹlọrun alabara pẹlu ModelDerm jẹ kekere diẹ ju pẹlu awọn ijumọsọrọ telemedicine isanwo.
Cafe au lait macule ti ri ninu Neurofibromatosis type 1 (NF-1)
Neurofibromatosis jẹ ipo ti o fa awọn èèmọ ninu eto aifọkanbalẹ ati awọ ara. Iru 1 ni a jogun ni pataki ati ṣafihan awọn ami aisan bii neurofibromas, café-au-lait spots, freckling, and optic gliomas. Ayẹwo aisan da lori awọn ami iwosan. Iru 2, ni apa keji, ti samisi nipasẹ bilateral vestibular schwannomas (VS) and meningiomas , tun jogun ni agbara. Isakoso pẹlu abojuto deede ati itọju ilera bi o ṣe nilo fun awọn oriṣi mejeeji 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.
Awọn aami aiṣan ti o wọpọ ti neurofibromatosis pẹlu awọn aaye pupa brownish-pupa ni apakan awọ ti oju ti a npe ni Lisch nodules ati neurofibromas. Scoliosis (ìsépo ti ọpa ẹhin), awọn ailera ikẹkọ, awọn rudurudu ojuran, ailera ọpọlọ, ọpọlọpọ kafe au lait spots ati warapa le tun wa pẹlu.
Ko si itọju kan pato bi ti sibẹsibẹ.