Peutz-Jeghers syndrome

Intestinal polyposis-cutaneous pigmentation syndrome; Lentiginosis, Perioral; Periorificial lentiginosis syndrome; PJS; Polyposis, hamartomatous intestinal; Polyposis, Intestinal, II; Polyps-and-spots syndrome

Peutz-Jeghers is an autosomal dominant genetic disease. The three main criteria for diagnosis are: Family history Mucocutaneous lesions on the lips, hands and feet Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with a low potential for malignancy. Having 2 of the 3 listed criteria indicates a positive diagnosis. Definitive diagnosis requires a histological sample of a polyp. In 1998, a gene was found to be associated with the mutation. On chromosome 19, the gen ...