Desai D C, Murday V, Phillips R K, Neale K F, Milla P, Hodgson S V
Polyposis Registry, St Mark's Hospital, Harrow, Middlesex, UK.
J Med Genet. 1998 Jun;35(6):476-81. doi: 10.1136/jmg.35.6.476.
Solitary juvenile polyps are quite frequent in children, but juvenile polyposis (JP) is a rare autosomal dominant trait characterised by the occurrence of numerous polyps in the gastrointestinal tract. Extracolonic phenotypic abnormalities are well documented in patients with familial adenomatous polyposis and Peutz-Jeghers syndrome and can allow a clinical diagnosis to be made before the bowel pathology becomes available. Though described, characteristic extracolonic abnormalities have not been clearly defined in juvenile polyposis. We sought to determine whether there are consistent extracolonic phenotypic abnormalities in JP patients and how frequently this would allow diagnosis of one of the genetic syndromes known to be associated with juvenile polyposis. Twenty-two JP patients underwent clinical examination and data from one patient were obtained from case notes. Those consenting to further investigations had x rays of the skull, chest, and hands and an echocardiogram if clinically indicated. Significant extracolonic phenotypic abnormalities were present in 18 patients (14 male and four female), and included dermatological (13), skeletal (16), neurological (5), cardiopulmonary (4), gastrointestinal (3), genitourinary (4), and ocular (1) features. In five patients the diagnosis of a genetic syndrome was possible: two had Bannayan-Riley-Ruvalcaba syndrome, two had Gorlin syndrome, and one had hereditary haemorrhagic telangiectasia (HHT, also known as Osler-Rendu-Weber syndrome). Other patients had some features of these conditions and of Cowden and Simpson-Golabi-Behmel syndromes, but these were not sufficient to allow a definitive diagnosis.
孤立性幼年息肉在儿童中相当常见，但幼年息肉病（JP）是一种罕见的常染色体显性性状，其特征是胃肠道出现大量息肉。家族性腺瘤性息肉病和佩-吉综合征患者的结肠外表型异常已有充分记录，可在肠道病理检查结果出来之前做出临床诊断。虽然已有相关描述，但幼年息肉病中特征性的结肠外异常尚未明确界定。我们试图确定幼年息肉病患者是否存在一致的结肠外表型异常，以及这种情况能在多大程度上有助于诊断已知与幼年息肉病相关的遗传综合征之一。22例幼年息肉病患者接受了临床检查，其中1例患者的数据来自病例记录。同意进一步检查的患者接受了头颅、胸部和手部的X光检查，如有临床指征则进行超声心动图检查。18例患者（14例男性和4例女性）存在明显的结肠外表型异常，包括皮肤（13例）、骨骼（16例）、神经（5例）、心肺（4例）、胃肠道（3例）、泌尿生殖（4例）和眼部（1例）特征。5例患者有可能诊断为遗传综合征：2例患有班纳扬-莱利-鲁瓦尔卡巴综合征，2例患有戈林综合征，1例患有遗传性出血性毛细血管扩张症（HHT，也称为奥斯勒-伦杜-韦伯综合征）。其他患者具有这些疾病以及考登综合征和辛普森-戈拉比-贝梅尔综合征的一些特征，但这些特征不足以做出明确诊断。
