Peutz - jeghers syndrome

(J.L.A. Peutz, 18861957, Dutch physician and Harold Jeghers, 20th century, American physician), rare familial disorder, characterized by mucocutaneous pigmentation, gastrointestinal polyposis and an increased risk of cancer at a number of gastrointestinal and extraintestinal organs. The disease is inherited as a single pleiotropic autosomal dominant gene with variable and incomplete penetrance. It is estimated that the Peutz Jeghers syndrome represents about 10% of all hereditary gastrointestinal polyposis syndromes and together with familial adenomatous polyposis account for the two most commonly encountered polyposis syndromes. The mucocutaneous lesions or melanin spots are observed in more than 95% of affected persons. Gastrointestinal polyps occur in 88100% of all individuals affected by the Peutz Jeghers syndrome and manifest themselves during puberty and adolescence. They most commonly are present in the small intestine, less frequently in the colon and in the stomach. In the small intestine they occur mostly in the jejunum.

Macroscopically polyps in Peutz Jeghers syndrome are variable in size and shape. They may present as sessile structures if small but if they become larger they commonly will present a stalk and a lobulated surface. Histologically polyps of the Peutz Jeghers are hamartomas composed of a smooth muscle core with branching radial extensions. Although Peutz Jeghers polyps are not considered as premalignant disease adenomatous change and cancer of these polyps can occur rarely in some patients. Peutz Jegers syndrome is frequently associated with breast carcinoma, that may be bilateral, benign ovarian tumours, described as "sex cord tumours" and ovarian carcinoma as well as pancreatic adenocarcinoma.

The main clinical symptoms related to Peutz Jeghers polyps are intermittent abdominal pain due to recurrent intussusception as well as gastrointestinal bleeding with anaemia.

Small bowel enema demonstrates multiple polyps of different sizes, scattered throughout the small intestine. They appear as discrete, sessile or pedunculated filling defects, round or oval shaped when small in size and exhibiting coarse lobulation when larger than 1.5 cm (Fig.1). Their distribution along the small bowel is frequently segmental. Larger lesions, 56 cm in size or confluent hamartomas in an intestinal loop may result in intussusception. The typical appearance in such cases is that of a lobulated filling defect, accompanied by a "coiled spring" image, a short conic stenosis and a prestenotic dilatation. In the colon and the stomach, the radiographic appearance of Peutz Jeghers polyps on double contrast barium studies is similar as that of adenomatous polyps but the lesions are usually multiple, larger and the surface is often lobulated. Cross-sectional imaging methods may be helpful for the detection of associated extraintestinal lesions particularly for ovarian tumours. In case of intussusception CT may display a typical multilayered appearance.

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