Neurofibromatosis - 神經纖維瘤病
Cafe au lait macule 見於Neurofibromatosis type 1 (NF-1)
relevance score : -100.0%
ReferencesNeurofibromatosis 是一種會導致神經系統與皮膚腫瘤的疾病。第1型呈顯性遺傳，表現出類似 neurofibromas、café-au-lait spots、freckling 以及 optic gliomas 的症狀。診斷基於臨床表現。另一方面，第2型以 bilateral vestibular schwannomas (VS) 和 meningiomas 為特徵，同樣為顯性遺傳。管理包括根據需要對兩型 neurofibromatosis 進行定期監測與治療。
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.
神經纖維瘤病 (neurofibromatosis) 的常見症狀包括眼部色素沉著呈棕紅色斑點（稱為 Lisch 結節）以及神經纖維瘤。其他可能伴隨的表現有脊椎側彎、學習障礙、視力問題、精神障礙、多發咖啡斑與癲癇。
目前尚無根治方法。