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Peutz-Jeghers Syndrome: Lessons to be Learned in the Clinical Diagnosis
Ram Mohan Shukla1, Pooja Tiwari1, Samprati Dariya1
1Department of Pediatric Surgery, M. G. M. Medical College and M. Y. Hospital, Indore, Madhya Pradesh, India.
Insights
Peutz-Jeghers Syndrome (PJS) is often misdiagnosed, leading to delayed treatment. Early diagnosis requires high suspicion for recurrent abdominal pain and careful examination for characteristic melanotic spots.
Area of Science:
- Gastroenterology
- Genetics
- Clinical Medicine
Background:
- Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous hyperpigmentation.
- The syndrome affects approximately 1 in 120,000 births.
Purpose of the Study:
- To highlight the challenges in diagnosing Peutz-Jeghers Syndrome.
- To emphasize the importance of clinical suspicion and examination in preventing misdiagnosis.
Main Methods:
- Retrospective review of 11 misdiagnosed Peutz-Jeghers Syndrome cases.
- Diagnosis based on clinical suspicion, family history, and histopathological examination.
- Inclusion of routine investigations, imaging, and endoscopy.
Main Results:
- Most PJS cases presented with intussusception requiring emergency surgery.
- Misdiagnosis occurred due to missed mucocutaneous melanotic spots.
- Confirmed PJS diagnosis requires hamartomatous polyps and specific clinical criteria.
Conclusions:
- A high index of suspicion is crucial for diagnosing PJS in patients with recurrent abdominal pain and rectal bleeding.
- Thorough family history and meticulous clinical examination for melanosis are vital to avoid misdiagnosis.
- Regular follow-up is essential due to symptom recurrence and cancer susceptibility in PJS patients.
Introduction:
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disease presenting with hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on lips and oral mucosa. The incidence of this syndrome is approximately 1 in 1,20,000 births.
Materials And Methods:
In this article, we are presenting 11 cases of PJS which were misdiagnosed and patients were compelled to visit hospital repeatedly. All these cases were diagnosed based on clinical suspicion, family history, and histopathological examination of specimens. Most of the cases presented with intussusception and required emergency surgical management.
Results:
PJS can be diagnosed by the presence of microscopically confirmed hamartomatous polyps and a minimum of two of the following clinical criteria: Family history, mucocutaneous melanotic spots, and small bowel polyps with bleeding per rectally. The diagnosis can be missed if the melanotic spots on the face are missed. Routine investigations, imaging, and endoscopy were done in all cases. PJS patients need regular follow-up due to chance of recurrence of symptoms and susceptibility to cancer.
Conclusion:
PJS needs a high index of suspicion for diagnosis in cases of recurrent abdominal pain with bleeding per rectum. Proper family history and meticulous clinical examination for melanosis are very important to prevent the misdiagnosis of these cases.
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