黑斑息肉综合征3例报道并文献复习

发布时间：2018-09-14 06:44

【摘要】：目的:总结黑斑息肉综合征(Peutz-Jeghers syndrome,PJS)的发病规律,就诊时的主要临床特点、癌变及治疗预后,加深我们对PJS的临床特点的认识,减少临床的漏诊率及误诊,有助于定期监测癌变情况,进行临床随访,提高对PJS的临床管理。方法:查阅2005年1月至2015年12月山西医科大学第二医院住院治疗的PJS患者得到3例,并进行回顾性分析,在国内数据库检索2005年1月至2015年12月文献资料,去除重复报道的病例资料、综述,得到PJS病例报道110例,并对相关文献资料进行总结复习。结果:我院结果:3例确诊的PJS患者均存在皮肤、黏膜的黑色素沉着及胃肠道息肉。临床表现以腹痛、恶心呕吐、腹泻、黑斑为主要症状,1例并发急性胰腺炎,1例并发肠梗阻,且伴发甲状腺瘤、宫颈癌;3例患者中2例息肉性质为腺瘤性息肉,1例为错构瘤性息肉,1例存在家族史。2例既往行手术治疗,2例多次行内镜下息肉切除术。3例均好转出院。文献结果:1.年龄、性别、家族史:110例PJS患者的平均发病年龄为(23.04±12.21)岁,范围为4~67岁,男性病人56例,女性病人54例,男女比例为1.03:1。110例病人中有家族史者59例(53.6%)。2.黑斑部位:最常出现黑斑的部位为口唇、手掌及手指末端、足掌及足趾、颊粘膜。此外颜面部、鼻部、眼睑、会阴及上颚亦有发现。3.临床表现:主要临床表现依频次分别为腹痛、恶心呕吐、黑便、腹胀、色素沉着斑、肛门肿物脱出等。4.并发症:主要并发症为肠套叠、肠梗阻、肠坏死。5.息肉分布以小肠(71.8%)最为常见,其次是大肠(66.4%)及胃(36.4%)。6.病理结果:息肉常见的病理类型为错构瘤性息肉、腺瘤性息肉,还有少量炎症性息肉,增生性息肉。7.癌变:22例患者发生癌变,癌变率为20.0%,其中10例小肠癌,5例大肠癌,3例子宫颈癌,3例卵巢癌,1例肝癌。8.治疗:以手术更为常见,76例患者进行剖腹探查或者手术治疗,48例患者进行内镜下息肉切除术,23例患者联合使用内镜切除和手术治疗。结论:1.PJS临床表现多样,对以腹痛、恶心呕吐、黑便为主要临床表现就诊的患者,应询问家族史,观察皮肤黏膜的色素沉着斑和检查胃肠道息肉情况。2.PJS可引起胰腺炎,易并发肠梗阻、肠套叠,且易合并胃肠道和胃肠外肿瘤,需定期随访和进行防癌筛查,注意筛查女性生殖系统肿瘤。3.对PJS患者应加强小肠息肉的筛检。
[Abstract]:Objective: To summarize the pathogenesis, main clinical features, canceration and prognosis of Peutz-Jeghers syndrome (PJS), to deepen our understanding of the clinical characteristics of PJS, to reduce the rate of missed diagnosis and misdiagnosis, and to help regular monitoring of canceration, clinical follow-up and improve the clinical management of PJS. From January 2005 to December 2015, 3 cases of PJS patients hospitalized in the Second Hospital of Shanxi Medical University were retrospectively analyzed. Literature data from January 2005 to December 2015 were retrieved in domestic databases. Repeated cases were removed. A total of 110 cases of PJS were reported and the relevant literature was reviewed. Results: Three patients with PJS had skin, mucosal melanosis and gastrointestinal polyps. The main clinical manifestations were abdominal pain, nausea, vomiting, diarrhea and black spots. One patient complicated with acute pancreatitis, one with intestinal obstruction, and accompanied by thyroid tumor and cervical cancer. Literature Result: 1. Age, sex, family history: The average age of onset in 110 patients with PJS was (23.04 + 12.21) years old, ranging from 4 to 67 years old, 56 male patients, 54 female patients, and the ratio of male to female was 1.03:1.110. There were 59 cases (53.6%) with family history. 2. The most common sites of black spots were lip, palm and finger tip, foot and toe, buccal mucosa. In addition, facial, nose, eyelids, perineum and upper jaw were also found. 3. Clinical manifestations: The main clinical manifestations were abdominal pain, nausea and vomiting, black stool, abdominal distension, pigmented spots, anus. The main complications were intussusception, intestinal obstruction and intestinal necrosis. 5. The most common distribution of polyps was small intestine (71.8%), followed by large intestine (66.4%) and stomach (36.4%). Among them, 10 cases were small bowel cancer, 5 cases were colorectal cancer, 3 cases were cervical cancer, 3 cases were ovarian cancer, and 1 case was liver cancer. PJS can cause pancreatitis, intestinal obstruction, intussusception, and gastrointestinal and extragastrointestinal tumors. Regular follow-up and cancer screening are required. Check that screening for.3. in women's reproductive system should be done. Screening for small bowel polyps should be strengthened for PJS patients.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R596.1

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