睑板神经纤维瘤及全身神经纤维瘤病1例并文献复习OA
A case of tarsus neurofibroma and generalized neurofibromatosis with literature review
Ⅰ型神经纤维瘤病(NF1)是一种多系统遗传性疾病,是由位于第17号染色体上的神经纤维瘤蛋白1基因突变引起.发生于眼部的神经纤维瘤相对罕见,尤其睑板部位的神经纤维瘤很难与睑板腺囊肿等其他常见肿物相区分.因此,临床医生往往缺乏足够的经验,无法对患者进行正确的干预.在本报告中,我们报道一例31岁的男性患者,他因左眼上睑外眦部局限性无痛性肿胀持续1年于我院就诊.他全身可见NF1的症状,包括皮肤神经纤维瘤及虹膜Lisch结节,手术后活检结果为神经纤维瘤.随访期间,患者的术后恢复良好,随访半年眼睑皮肤及睑板未见复发迹象.除了报告该病例,我们还对其他与神经纤维瘤相关的病例进行了文献复习.
Neurofibromatosis type Ⅰ(NF1)is a multisystemic genetic disorder caused by mutations in the neurofi-bromatosis protein 1 gene located on chromosome 17.Neurofibromas occurring in the eye are relatively rare,and those in the lid area in particular are difficult to distinguish from other common swellings such as eyelid chalazion.As a result,cli-nicians often lack sufficient experience to properly intervene in patients.In this report,we report the case of a 31-year-old male patient who presented to our hospital with a limited painless swelling in the lateral canthus of the upper lid of his left eye that had persisted for 1 year.He had systemic signs of NF1,including cutaneous neurofibromas and iris Lisch nod-ules,which were biopsied after surgery.During the follow-up period,the patient's postoperative recovery was favorable,and there were no signs recurrence in the eyelid skin at six-month follow-up.In addition to reporting this case,we per-formed a comprehensive literature review of previously reported cases of ocular neurofibromas.
陈安琪;郭传恒;莫亚;李罗翔
610072,四川成都,成都中医药大学附属医院眼科||610075,四川成都,成都中医药大学眼科学院610072,四川成都,成都中医药大学附属医院眼科||266000,山东青岛,青岛市黄岛区中医医院610072,四川成都,成都中医药大学附属医院眼科||610075,四川成都,成都中医药大学眼科学院610072,四川成都,成都中医药大学附属医院病理科
医药卫生
睑板神经纤维瘤Lisch结节Ⅰ型神经纤维瘤病
Tarsus neurofibromaLisch's nodeType Ⅰ neurofibromatosis
《中医眼耳鼻喉杂志》 2026 (1)
63-66,4
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