Peutz jeghers syndrome

(J.L.A. Peutz, 1886 - 1957, Dutch physician; Harold Jeghers, 20 century, American physician), a familial polyposis syndrome characterized by brown pigmentation of the lips, oral mucosa and sometimes of the face, arms and soles of the feet, associated with hamartomatous polyps in the bowel. The polyps occur anywhere in the bowel but are predominantly found in the small bowel and the stomach. There is autosomal dominant inheritance with variable penetrance and a high incidence of development of neoplasm both in the bowel and in extraintestinal locations, breast, ovary and pancreas. The clinical presentation is with abdominal pain which may be due to recurrent intussusception or intermittent obstruction. Bowel obstruction may develop if the polyps get large. The polyps vary in size from 1 cm to 6 cm. Distribution in the small bowel may be segmental. The polyps are lobulated or may have a stalk (Fig.1). Radiologically, the polyps are shown as smooth intraluminal masses within the barium column. There may be an associated coiled spring appearance due to intussusception. The small bowel polyps are best demonstrated by enteroclysis. See Peutz Jeghers syndrome

HC