Munakomi Sunil, Singh Achint K.
Kathmandu University
Un of Texas Health Sci Ctr San Antonio
Neurofibromatosis type 1 (NF-1) or Von Recklinghausen disease is one of the inheritable neurocutaneous disorders that also harbinger the risk for bone abnormalities, vasculopathy, and cognitive impairment. It is an autosomal dominant disorder. Moreover, it is the most common hamartoma neoplastic syndrome, such as tuberous sclerosis, Gardner, and Cowden syndromes. Other types of neurofibromatosis are Neurofibromatosis type 2 (NF2) and schwannomatosis. Cafe-au-lait macules and neurofibromas are the distinguishing features of NF1. NF2 can have similar cutaneous manifestations as that of NF1. But the hallmark manifestations of NF2 include schwannoma, meningioma, and ependymoma.
1型神经纤维瘤病(NF-1)或冯·雷克林豪森病是一种可遗传的神经皮肤疾病,也预示着存在骨骼异常、血管病变和认知障碍的风险。它是一种常染色体显性疾病。此外,它是最常见的错构瘤性肿瘤综合征,如结节性硬化症、加德纳综合征和考登综合征。其他类型的神经纤维瘤病是2型神经纤维瘤病(NF2)和神经鞘瘤病。牛奶咖啡斑和神经纤维瘤是NF1的显著特征。NF2可能具有与NF1相似的皮肤表现。但NF2的标志性表现包括神经鞘瘤、脑膜瘤和室管膜瘤。