A survey of phenotypic features in juvenile polyposis

• Published in: Journal of medical genetics Vol. 35; no. 6; pp. 476 - 481
• Main Authors: Desai, D C, Murday, V, Phillips, R K, Neale, K F, Milla, P, Hodgson, S V
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.06.1998; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Aged; Biological and medical sciences; Child; Child, Preschool; Congenital Abnormalities - genetics; Female; Gastroenterology. Liver. Pancreas. Abdomen; Humans; Intestinal Polyps - complications; Intestinal Polyps - genetics; Male; Medical sciences; Middle Aged; Neoplasms, Second Primary - genetics; Other diseases. Semiology; Phenotype; Polyps - complications; Polyps - genetics; Skin Diseases - complications; Skin Diseases - genetics; Skin Neoplasms - genetics; Stomach Neoplasms - complications; Stomach Neoplasms - genetics; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Human; Clinical form; Exploration; Juvenile polyposis; Polyposis; Genetic disease; Phenotype; Etiology; Digestive diseases; Intestinal disease; Benign neoplasm; Colon; Diagnosis
• ISSN: 0022-2593; 1468-6244; 1468-6244
• 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.