Peutz–Jeghers syndrome

Abstract

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition presenting with mucocutaneous pigmentation. We report a rare condition of PJS in an 11-year-old female. Case Presentation: An 11-year-old girl, previously healthy and developmentally normal, presented to the emergency department of the hospital with a 1-week history of vomiting and abdominal pain. She was given symptomatic treatment and referred to pediatric gastroenterology for further management and diagnosis based on the physical findings. The examination findings included hyperpigmented macules on fingertips, toes, lips, and oral mucosa. She had a history of rectal polypectomy in the past. Parents were cousins, but there was no significant family history. She was diagnosed as PJS based on her physical findings and multiple gastric polyps on endoscopy. Conclusion: PJS is characterized by mucocutaneous pigmentation and multiple gastrointestinal polyps. Rectal polyp can be a clue to the syndrome even before the appearance of hyperpigmented macules. They need lifelong follow-up because they are prone to gastrointestinal complications and malignancies.