Unexpected Peutz-Jeghers syndrome in an adult presenting with intermittent upper intestinal obstruction. A case report

Abstract

Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different possible syndrome phenotypes and the difficulty of their diagnosis.