Neurofibromatosis - 神经纤维瘤病
咖啡斑（Cafe au lait macule）见于神经纤维瘤病1型（Neurofibromatosis type 1，NF-1）。
relevance score : -100.0%
ReferencesNeurofibromatosis 是一种导致神经系统和皮肤肿瘤的疾病。1 型为显性遗传，表现为 neurofibromas、café‑au‑lait spots、freckling 和 optic gliomas 等症状。诊断主要依据临床表现。2 型以 bilateral vestibular schwannomas (VS) 和 meningiomas 为特征，同样为显性遗传。管理包括对两型 neurofibromatosis 进行定期随访和必要的治疗。
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.
常见症状包括眼部色素区出现棕红色斑点，即 Lisch 结节，以及神经纤维瘤。 还可能出现脊柱侧弯、学习障碍、视力障碍、精神障碍、多发咖啡斑和癫痫等。
目前尚无根治方法。