Peutz-Jeghers综合征研究进展

Research progress in the study of Peutz-Jeghers syndrome

Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)又叫色素沉着息肉综合征,伴有口腔黏膜、口周皮肤等部位色素斑及胃肠道错构瘤性息肉,是一种由丝氨酸/苏氨酸蛋白激酶(LKB1/STK11)胚系突变导致的常染色体显性遗传性疾病。大部分患者皮肤黏膜色素斑的临床表现早于胃肠道息肉。近年来因口腔黏膜及口周皮肤色素斑前来口腔科就诊的患者数逐渐增多,患者并无自觉症状,经胃肠道检查后才确诊。为了使口腔科医务工作者能更好的了解、诊断Peutz-Jeghers综合征,本文从病因、肿瘤易感性、临床表现、诊断、检查及治疗、预防方面对PJS进行阐述和总结。

Peutze-Jeghers syndrome （PJS） is an autosomal dominant genetic disease caused by a germline mutation in the STKll/ LKB1 gene and associated with pigmentation in oral mucosa,perioral skin ect. and gastrointestinal hamartomatous polyps. Most patients＇ mucocutaneous pigmentations emerged before gastrointestinal polyps. In recent years, the number of patients with pigmentation in oral mucous and perioral skin have gradually increased in the department of stomatology. With no subjective symptoms, they are not diag- nosed as having Peutze-Jeghers syndrome until gastrointestinal examination. To enable stomatology medical workers better understand and diagnose Peutz-Jeghers syndrome, this paper will expound and summarize PJS in terms of etiology, tumor susceptibility, clinical manifestation.diagnosis, examination and treatment, and its prevention.