Neurofibromatosis - 神经纤维瘤病
Cafe au lait macule 见于Neurofibromatosis type 1 (NF-1)
relevance score : -100.0%
ReferencesNeurofibromatosis 是一种导致神经系统和皮肤出现肿瘤的疾病。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 型的特征是 bilateral vestibular schwannomas (VS) 和 meningiomas，同样为显性遗传。管理措施包括对两型 Neurofibromatosis 进行定期随访和必要的医学治疗。
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.
常见症状包括眼部有色部分出现棕红色斑点，即 Lisch 结节，以及神经纤维瘤。患者还可能出现脊柱侧弯（脊柱弯曲）、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。