- 期刊
侵犯鼻尖部之Von Recklinghausen氏病－病例報告
Von Recklinghausen's Disease with Nasal Tip Involvement - Case Report
摘要
Von Recklinghausen氏病是屬於一種自體顯性遺傳的神經皮層系統疾病。其侵犯的範圍多以廣泛性皮層神經纖維瘤、許多café-au-lait斑、中樞神經系統腫瘤、骨骼異常及內分泌異常為主。而以鼻尖腫塊為主要表微的病例則罕見。茲報告本科於去年8月經歷之1例：16歲女孩因緩慢生長的鼻尖腫塊至本科就醫，經手術將其切除後病理報告為彌漫性神經纖維瘤，同時發現其身上有許多café-au-lait斑及陽性家族史，故診斷為Von Recklinghausen氏病。
並列摘要
Von Recklinghausen's disease is a neurocutaneous systemic disease character-ized by central nervous system tumors and disorders, café-au lait sports, generalized cutaneous neurofibromata and skeletal deformities. It is an autosomal dominant hereditary disease and had various manifest-tations in the head and neck region, but it is rare to manifest with nasal tip involve-ment. A case in a 16-year-old girl who had nasal tip soft mass for 6 months was presented. The mass was excised and showed diffuse neurofibroma. Meanwhile she had many café-au-lait spots in her body and positive family history. Von Recklinghausen’s disease was diagnosed according to clinical criteria.
延伸閱讀
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