Neurofibromatosis - 神經纖維瘤病
Cafe au lait macule 見於Neurofibromatosis type 1 (NF-1)
References
Neurofibromatosis 是一種會導致神經系統和皮膚腫瘤的疾病。 1 型呈顯性遺傳，並表現出類似 neurofibromas, café-au-lait spots, freckling, and optic gliomas 的症狀。診斷基於臨床症狀。另一方面，類型 2 以 bilateral vestibular schwannomas (VS) and meningiomas 為標記，也是顯性遺傳的。管理包括根據需要對兩種類型的 neurofibromatosis 進行定期監測和醫療治療。
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.
神經纖維瘤病 (neurofibromatosis) 的常見症狀包括眼睛有色部分出現棕紅色斑點，稱為 Lisch 結節和神經纖維瘤。脊椎側彎（脊椎彎曲）、學習障礙、視力障礙、精神障礙、多發咖啡斑和癲癇也可能伴隨。
目前還沒有具體的治療方法。