Peutz-Jeghers Syndrome in a Young Ethiopian Male: A Case Report.

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal (GI) tract, pigmented mucocutaneous lesions, and an increased risk of cancer. We report a case of a 22-year-old male from Ethiopia who presented with recurrent abdominal pain and a history of surgery for bowel obstruction. Endoscopic evaluation revealed multiple polyps in the stomach, ileum, and colon, which were confirmed histopathologically as hamartomatous polyps. Mucocutaneous pigmentation and family history of GI symptoms and maternal breast cancer led to the diagnosis of PJS, despite the unavailability of genetic testing. The patient underwent therapeutic polypectomy and was advised on cancer surveillance. This case highlights the importance of recognizing and managing PJS in resource-limited settings, emphasizing the need for early diagnosis and vigilant surveillance to prevent complications, especially when genetic testing may not be readily available.