本文报告Peutz-Jegher’s综合征5例,其中4例经手术证实,2例有明显家族史。1例有黑色素斑点而无胃肠道症状,经随访七年后手术证实有多发性肠息肉存在;另一例拒绝手术,十年后死于肠息肉癌变。作者就遗传学上的基因“多效性”与“外显率”原则结合病例进行探讨,认为有些患者表型正常而实际为基因携带者。鉴于本病有恶变可能,故随访及早期发现患者有重要意义。 This article reports 5 cases of Peutz-Jegher’s syndrome, of which 4 cases confirmed by surgery, 2 cases had a clear family history. One case had melanin spots without gastrointestinal symptoms. Seven years after the follow-up, it was confirmed that there was multiple intestinal polyps. Another case refused surgery and died of intestinal polyps ten years later. The authors discussed the combination of gene “pleiotropic” and “penetrance” principles in genetics, suggesting that some patients are phenotypically normal and actually gene carriers. In view of the malignant disease may be, so follow-up and early detection of patients with important significance.