Neurofibromatosis yaiku kelainan manungsa multi-sistem sing kompleks sing disebabake dening mutasi neurofibromin. Neurofibromatosis nyebabake tumor ing sadawane sistem saraf sing bisa tuwuh ing endi wae ing awak. Neurofibromatosis minangka salah sawijining kelainan genetik sing paling umum lan autosomal dominan.
Gejala sing umum saka neurofibromatosis kalebu bintik-bintik abang coklat‑coklat ing bagian mripat sing diarani Lisch nodules lan neurofibroma. Scoliosis (kelengkungan balung mburi), learning difficulties, gangguan penglihatan, intellectual disability, sawetara café au lait spots lan epilepsy bisa uga diiringi.
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 katon ing Neurofibromatosis type 1 (NF-1)
Neurofibromatosis minangka kondisi sing nyebabake tumor ing sistem saraf lan kulit. Tipe 1 diwarisake sacara dominan lan nuduhake gejala kaya neurofibromas, café-au-lait spots, freckling, and optic gliomas. Diagnosis adhedhasar pratandha klinis. Tipe 2, ing sisih liya, ditandhani kanthi bilateral vestibular schwannomas (VS) and meningiomas, uga diwarisake sacara dominan. Manajemen kalebu pemantauan rutin lan perawatan medis sing dibutuhake kanggo loro jinis 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.
Gejala sing umum saka neurofibromatosis kalebu bintik-bintik abang coklat‑coklat ing bagian mripat sing diarani Lisch nodules lan neurofibroma. Scoliosis (kelengkungan balung mburi), learning difficulties, gangguan penglihatan, intellectual disability, sawetara café au lait spots lan epilepsy bisa uga diiringi.
Ora ana perawatan khusus nganti saiki.