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以Von Kecklinghausen命名的多发性神经纤维瘤病(简称VRD)是一种显性遗传特性多变的遗传基因性疾病.多见于男性,新生儿中发病率为1/3000.通常以皮肤色素异常、皮肤神经纤维瘤病和中枢神经系统新生物为特征,恶性者占3～5%.与VRD有关的基因异常可增加受累组织恶变的危险性.现已证实约25%的患者可同时患有胃肠道病变.本文作者收治1例并就文献复习作一综合报道.作者收治的1例,男性、23岁、幼时健康.1年前因腹痛曾拟胰腺炎治疗,此后黄疸持续,作B超发现胆管扩张、ERCP证实壶腹部有2×3cm肿块.入院体检发现黄疸、恶病质及皮肤多发性神经纤维瘤,有中上腹压痛.大便隐血阴性,SB’/SB为4.1/6.7,
Neurofibromatosis (VRD), named after Von Kecklinghausen, is a genetic disease with dominant genetic traits. It is more common in males. The incidence in neonates is 1/3000. Neurofibromatosis of the skin and a new organism of the central nervous system are characterized by 3 to 5% of malignant cases. Gene abnormalities associated with VRD can increase the risk of malignancy in involved tissues. It has been confirmed that about 25% of patients may have stomach at the same time. Intestinal pathology. The author of this article treated 1 case and gave a comprehensive report on the review of the literature. The author was treated in 1 case, male, 23 years old, healthy childhood. 1 year ago because of abdominal pain had been planned for pancreatitis treatment, after which the jaundice continued, as B Super-discovered bile duct dilation, ERCP confirmed ampulla 2x3cm mass. Admission examination found jaundice, cachexia, and multiple neurofibromas of the skin, there are mid-upper abdominal tenderness, fecal occult blood negative, SB’/SB was 4.1/6.7,