Neurofibromatosis - 神經纖維瘤病
咖啡牛奶斑 (Cafe au lait macule) 常見於 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型為顯性遺傳，臨床表現包括 neurofibromas、café‑au‑lait spots、freckling 以及 optic gliomas。診斷主要依據臨床症狀。第2型則以 bilateral vestibular schwannomas (VS) 與 meningiomas 為特徵，同樣為顯性遺傳。管理上，需對兩型 Neurofibromatosis 進行定期監測與必要的醫療治療。
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.
常見症狀包括眼睛有色部分出現棕紅色斑點，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（脊椎彎曲）、學習障礙、視力障礙、精神障礙、多發咖啡斑與癲癇。
目前尚無根治方法。