Peutz-Jeghers syndrome: Clinical characteristics, risk of malignancies and importance of surveillance

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant hereditary disease characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyposis and an increased risk for the development of gastrointestinal and extragastrointestinal malignancies. Aim and methods: Five generations of two PJS families (21–21 patients) were analyzed to summarize the clinical appearance of the disorder by interview, physical examination, laboratory and imaging studies. Results: Phenotypic variability was observed in PJS both in and between families. In family “A” 13 people were diagnosed as being affected, all of t…