Neurofibromatosis - 神经纤维瘤病
Cafe au lait macule 见于Neurofibromatosis type 1 (NF-1)
References
Neurofibromatosis 是一种导致神经系统和皮肤肿瘤的疾病。 1 型呈显性遗传，并表现出类似 neurofibromas, café-au-lait spots, freckling, and optic gliomas 的症状。诊断基于临床症状。另一方面，类型 2 以 bilateral vestibular schwannomas (VS) and meningiomas 为标记，也是显性遗传的。管理包括根据需要对两种类型的 neurofibromatosis 进行定期监测和医疗治疗。
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.
神经纤维瘤病 (neurofibromatosis) 的常见症状包括眼睛有色部分出现棕红色斑点，称为 Lisch 结节和神经纤维瘤。脊柱侧弯（脊柱弯曲）、学习障碍、视力障碍、精神障碍、多发咖啡斑和癫痫也可能伴有。
目前还没有具体的治疗方法。