A SURVEY OF PHENOTYPIC FEATURES IN JUVENILE POLYPOSIS

Solitary juvenile polyps are quite frequent in children, but juvenile polyposis (TP) is a rare autosomal dominant trait characterised by the occurrence of numerous polyps in the gastrointestinal tract. Extracol onic phenotypic abnormalities are well documented in patients with fam ilial adenomatous polyposis and Peutz-Jeghers syndrome and can allow a clinical diagnosis to be made before the bowel pathology becomes avai lable. Though described, characteristic extracolonic abnormalities hav e not been clearly defined in juvenile polyposis. We sought to determi ne 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 o ne patient were obtained from case notes. Those consenting to further investigations had x rays of the skull, chest, and hands and an echoca rdiogram if clinically indicated. Significant extracolonic phenotypic abnormalities were present in 18 patients (14 male and four female), a nd included dermatological (13), skeletal (16), neurological (5), card iopulmonary (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 sy ndrome, 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.