Abstract

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps throughout the gastrointestinal tract and distinctive mucocutaneous pigmentation. We present a case of PJS in a 17-year-old male who presented with melena, which led to the discovery of multiple hamartomatous polyps in the small intestine, colon, and stomach. Despite the rarity of this syndrome, prompt recognition of its clinical manifestations, including gastrointestinal bleeding, is crucial for early diagnosis and management. This case underscores the importance of considering PJS in the differential diagnosis of patients presenting with melena, as timely intervention can prevent serious complications such as bowel ischemia and malignant transformation. Additionally, it highlights the significance of comprehensive surveillance and screening protocols for individuals with PJS to detect and manage associated malignancies and gastrointestinal complications effectively.

Key words: Peutz-Jeghers Syndrome, melena, Hamartomatous polyps, Mucocutaneous pigmentations