abstract: Case studies in the diagnosis and management of Peutz-Jeghers Syndrome (PJS) (ovarian sex cord tumors)

Abstract

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by melanotic macules, gastrointestinal polyps and increased cancer risks. We discuss several common scenarios encountered in the diagnosis and management of PJS patients. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the peutz-jeghers.com, geneclinics.org, stk11.com websites are useful resources for patients.