息肉病需要进行全面的体格检查以做出最终诊断：班纳扬-莱利-鲁瓦尔卡瓦综合征。

Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.

作者信息

Hızarcıoğlu-Gülşen Hayriye, Kılıç Esra, Dominguez-Garrido Elena, Aydemir Yusuf, Utine Gülen Eda, Saltık-Temizel İnci Nur

机构信息

Divisions of Pediatric Gastroenterology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

出版信息

Turk J Pediatr. 2017;59(1):80-83. doi: 10.24953/turkjped.2017.01.014.

DOI:10.24953/turkjped.2017.01.014

PMID:29168369

Abstract

Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS. Gastrointestinal tract involvement is seen 35-45% of the patients. Histologic features of polyps in BRRS resemble juvenile polyps. In this report, we describe a boy presenting with hematochezia and aggressive polyposis and finally was diagnosed as BRRS due to extra intestinal findings.

摘要

希扎尔乔奥卢 - 居尔森H、基利奇E、多明格斯 - 加里多E、艾登米尔Y、乌蒂内GE、萨尔蒂克 - 特米泽尔IN。息肉病需要完善体格检查以明确最终诊断：班纳扬 - 莱利 - 鲁瓦尔卡瓦综合征。《土耳其儿科学杂志》2017年；59：80 - 83。班纳扬 - 莱利 - 鲁瓦尔卡瓦综合征（BRRS）是一种罕见的常染色体显性遗传息肉病综合征，其特征为巨头症、脂肪瘤病、血管瘤病、肠道息肉病以及阴茎上的色素沉着斑。负责控制细胞增殖、迁移和凋亡的PTEN基因突变解释了BRRS中组织过度生长的原因。35% - 45%的患者可见胃肠道受累。BRRS中息肉的组织学特征类似于幼年息肉。在本报告中，我们描述了一名出现便血和侵袭性息肉病的男孩，最终因肠道外表现被诊断为BRRS。