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Ⅰ型神经纤维瘤病 被引量:5

Neurofibromatosis type 1:a case report
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摘要 报告1例以丛状型神经纤维瘤为典型临床表现的I型神经纤维瘤病。患儿女,5岁。左上肢巨大褐色斑片伴毛发密集生长5年。皮肤科检查:颈胸部左侧到上肢巨大褐色斑片,其上密集增粗增多的毛发,全身散在多发的咖啡斑,下背部皮下结节以及双上肢粗细不等。左肱骨X线检查示左侧肱骨弯曲,鹰嘴窝扩大,局部骨质缺损。CT示左肱骨形态欠规则,鹰嘴窝扩大,左侧尺桡骨上段局限性骨质缺损伴软组织密度影填充。皮损组织病理:真皮层可见界限清楚但无包膜的肿瘤,由大量梭形瘤细胞组成,核细长,波浪状嵌在基质中。结合国内外文献对Ⅰ型神经纤维瘤病的病因、临床表现、并发症及治疗进行讨论,从而加强对该病的认识。 A case of neurofibromatosis type 1 with plexiform neurofibroma is reported. A 5-year-old girl presented with gi- ant brown patch with dense hair on her left arm for 5 years. In addition to the main complain, physieal examination revealed multiple caf6-au-lait macules on her body and subcutaneous nodules on her lower back. Uneven ann size was noticeable. Humerus X-ray demonstrated bone defect on the lower part of left humerus with garbanzo nest expansion, Computed tomogra- phy (CT) scan also revealed that the lower part of left humerus displayed irregular form with garbanzo nest expansion. Local- ized defective bone appeared on the upper part of left side radius and ulna filled with soft tissue. Skin histopathology con- firmed the diagnosis of nerve fibroma. With domestic and foreign literature review,the etiology, clinical manifestations and treatment of neurofibronmtosis type 1 were discussed to strengthen our understanding of this disease.
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2013年第2期89-90,共2页 Journal of Clinical Dermatology
关键词 神经纤维瘤 丛状型 咖啡斑 神经纤维瘤病 I型 儿童 neurofibmma, plexiform caf6-au-lait spots neurofibromatosis, type 1 child
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参考文献12

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二级参考文献19

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