Erdas Enrico, Licheri Sergio, Pisano Giuseppe, Pomata Mariano, Daniele Giovanni Maria
Dipartimento di Scienze Chirurgiche e Trapianti d'Organo, Sezione di Chirurgia Generale II, Università degli Studi di Cagliari.
Chir Ital. 2005 Jul-Aug;57(4):425-36.
Peutz-Jeghers syndrome is a rare autosomal dominant polyposis characterized by mucocutaneous pigmentation, intestinal hamartomas and an increased risk mainly for gastrointestinal and gynaecological cancer. Our interest in this syndrome is due to the observation of three cases in the same family, two of whom presented the classic Peutz-Jeghers syndrome, while the other had perioral pigmentation only. Therefore, the main clinical elements emerge in the two first cases presenting with recurrent abdominal pain and sub-occlusion. The condition was managed by a combination of radiological, endoscopic and surgical procedures which enabled us to map and remove several gastrointestinal polyps. On histopathological examination the polyps were mainly hamartomas, though some presented both hamartomatous and adenomatous features, while others, removed endoscopically during the follow-up, were identified as true adenomas with initial carcinomatous changes. Furthermore, in one case follow-up examination allowed the early diagnosis and treatment of a cervical carcinoma. In agreement with the literature, our experience suggests that simple polypectomy, via an endoscopic and/or surgical approach, is the treatment of choice in Peutz-Jeghers syndrome. However, if gangrene due to invagination or neoplastic change occurs, an intestinal resection is mandatory. Cancer surveillance must be the first aim of follow-up.
佩-吉综合征是一种罕见的常染色体显性息肉病，其特征为皮肤黏膜色素沉着、肠道错构瘤，主要增加胃肠道和妇科癌症的发病风险。我们对该综合征感兴趣是因为观察到同一家庭中的三例病例，其中两例表现为典型的佩-吉综合征，而另一例仅有口周色素沉着。因此，主要临床症状出现在最初表现为反复腹痛和不完全性肠梗阻的两例病例中。通过放射学、内镜和外科手术相结合的方式对病情进行了处理，这使我们能够定位并切除多个胃肠道息肉。组织病理学检查显示息肉主要为错构瘤，不过有些息肉同时具有错构瘤和腺瘤的特征，而在随访期间通过内镜切除的其他息肉则被确定为具有初始癌变改变的真性腺瘤。此外，在一例病例中，随访检查实现了宫颈癌的早期诊断和治疗。与文献一致，我们的经验表明，在内镜和/或手术途径下进行单纯息肉切除术是佩-吉综合征的首选治疗方法。然而，如果发生肠套叠或肿瘤性改变导致的坏疽，则必须进行肠切除术。癌症监测必须是随访的首要目标。
