Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited polyposis syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with mucocutaneous pigmentation, especially around the mouth. It is a rare condition in most cases, attributed to mutation in STK11 gene [1]. Polyps vary in size (from few millimeters to approximately 7 cm) and location (mainly found in the small intestine, but also in extra-intestinal sites) and may occasionally be absent [2, 3]. In addition to polyposis, the risk of gastrointestinal and extra-gastrointestinal malignancies is significantly increased in PJS patients [4]. A regular lifetime surveillance is recommended after the polyp resection.

Description