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

Abate Bane Shewaye1,2, Kaleb Assefa Berhane1

  • 1Department of Internal Medicine, Adera Medical and Surgical Center, Addis Ababa, Ethiopia.

Case Reports in Gastrointestinal Medicine
|May 15, 2025
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and cancer risk. Early diagnosis and surveillance are crucial, especially in resource-limited areas lacking genetic testing.

Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
  • Characterized by hamartomatous polyps, mucocutaneous pigmentation, and increased cancer risk.

Observation:

  • A 22-year-old Ethiopian male presented with abdominal pain and prior surgery for bowel obstruction.
  • Endoscopy revealed multiple gastrointestinal hamartomatous polyps.
  • Clinical diagnosis of PJS was made based on symptoms, pigmentation, and family history, despite lack of genetic testing.

Findings:

  • Histopathology confirmed hamartomatous polyps.
  • Patient underwent polypectomy and was advised on cancer surveillance.

Implications:

  • Highlights PJS diagnosis and management challenges in resource-limited settings.
  • Emphasizes the need for early recognition and vigilant surveillance for PJS patients.
  • Underscores the importance of clinical diagnosis when genetic testing is unavailable.

Keywords:
EthiopiaPeutz–Jeghers syndromecancer riskgastrointestinal polypshamartomatous polypsmucocutaneous pigmentation

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