Mucocutaneous pigmentation as a diagnostic indicator in Peutz-Jeghers syndrome with progression to early malignant transformation

Abstract

Introduction. Peutz-Jeghers syndrome is a rare inherited disorder characterized by mucocutaneous pigmentation andgastrointestinal hamartomatous polyps, associated with obstructive and hemorrhagic complications and an increased risk of malignant neoplasms. Case presentation. A 19-year-old man with mucocutaneous hyperpigmentation since childhood, recurrent abdominal pain, and chronic dyspeptic symptoms. Physical examination revealed hyperchromic macules on the lips, oral mucosa, palms, and soles, associated with multiple gastrointestinal polyposis, leading to a clinical suspicion of Peutz-Jeghers syndrome. Endoscopy revealed hyperplastic gastric polyps; biopsy showed hamartomatous changes without malignancy. Treatment. Conservative management with endoscopic surveillance and genetic counseling was initially instituted. One year later, he presented with acute abdominal pain, leading to jejunal resection. Histopathological examination confirmed well-differentiated (G1) multifocal invasive intestinal adenocarcinoma. He received adjuvant chemotherapy with oxaliplatin and capecitabine for six cycles. Outcome. The patient remains under  multidisciplinary follow-up, with periodic surgical and endoscopic surveillance, and currently shows no evidence of disease progression. Conclusion. This case highlights the potential for early malignant transformation in Peutz-Jeghers syndrome and underscores the importance of close surveillance, timely diagnosis, and multidisciplinary follow-up.