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Gastroenterology32 papers

Peutz-Jeghers syndrome

Last edited: 4/14/2026

Overview

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the gastrointestinal tract and distinctive mucocutaneous pigmentation 1. It predisposes individuals to various malignancies, including gastrointestinal, pancreatic, lung, breast, uterine, ovarian, and testicular tumors 2.

Diagnosis

  • Clinical Features: Mucocutaneous pigmented lesions, typically around the mouth and oral mucosa, and gastrointestinal polyps 1.
  • Genetic Testing: Identification of STK11 gene mutations 2.
  • Endoscopic Evaluation: Double balloon enteroscopy (DBE) and intraoperative enteroscopy (IOE) for small bowel polyp detection and management 2.
  • Histological Confirmation: Polyps are typically hamartomatous on histological examination 1.
  • Management

  • Prophylactic Surveillance: Regular endoscopic surveillance to detect and remove polyps, particularly in the small bowel 2.
  • Polypectomy: Use of DBE for less invasive polyp removal compared to traditional surgical approaches 2.
  • Surgical Intervention: Indicated for complications such as intussusception, bleeding, or large polyps that cannot be managed endoscopically 1.
  • Cancer Surveillance: Enhanced screening for associated malignancies due to increased risk 2.
  • Special Populations

  • Pediatrics: Early surgical intervention may be necessary for complications in pediatric patients 8.
  • Comorbidities: No specific management adjustments noted for elderly or comorbid conditions; focus remains on surveillance and polyp removal 12.
  • Key Recommendations

  • Regular Endoscopic Surveillance: Implement routine endoscopic surveillance using DBE for early detection and removal of polyps to prevent complications and reduce malignancy risk (Evidence: Moderate 2).
  • Prophylactic Polypectomy: Perform prophylactic polypectomy to reduce the risk of malignant transformation and manage complications effectively (Evidence: Moderate 2).
  • Enhanced Malignancy Screening: Conduct enhanced screening for associated malignancies given the increased risk in PJS patients (Evidence: Expert opinion 2).
  • References

    1 Perko Z, Krnić D, Pogorelić Z, Druzijanić N, Simunić M, Bilan K et al.. Peutz-Jeghers syndrome complicated with intussusception: enteroscopic polyps resections through laparotomy. Collegium antropologicum 2013. link 2 Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World journal of gastroenterology 2009. link 3 Gupta I, Durrani HA. A family with Peutz-Jeghers syndrome. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 1989. link 4 Banse-Kupin LA, Douglass MC. Localization of Peutz-Jeghers macules to psoriatic plaques. Archives of dermatology 1986. link 5 Dewan PA, Hope JK. Peutz-Jeghers syndrome. The Australian and New Zealand journal of surgery 1985. link 6 Agha FP, Nostrant TT, Cohen AR, Dent T. Giant hamartoma of the colon: Peutz-Jeghers type. Journal of clinical gastroenterology 1985. link 7 Fetissof F, Berger G, Dubois MP, Philippe A, Lansac J, Jobard P. Female genital tract and Peutz-Jeghers syndrome: an immunohistochemical study. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 1985. link 8 Griffith CD, Bisset WH. Peutz-Jeghers syndrome. Archives of disease in childhood 1980. link 9 Foster DR, Foster DB. Gall-bladder polyps in Peutz-Jeghers syndrome. Postgraduate medical journal 1980. link

    Original source

    1. [1]
      Peutz-Jeghers syndrome complicated with intussusception: enteroscopic polyps resections through laparotomy.Perko Z, Krnić D, Pogorelić Z, Druzijanić N, Simunić M, Bilan K et al. Collegium antropologicum (2013)
    2. [2]
      Peutz-Jeghers syndrome: diagnostic and therapeutic approach.Kopacova M, Tacheci I, Rejchrt S, Bures J World journal of gastroenterology (2009)
    3. [3]
      A family with Peutz-Jeghers syndrome.Gupta I, Durrani HA Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology (1989)
    4. [4]
      Localization of Peutz-Jeghers macules to psoriatic plaques.Banse-Kupin LA, Douglass MC Archives of dermatology (1986)
    5. [5]
      Peutz-Jeghers syndrome.Dewan PA, Hope JK The Australian and New Zealand journal of surgery (1985)
    6. [6]
      Giant hamartoma of the colon: Peutz-Jeghers type.Agha FP, Nostrant TT, Cohen AR, Dent T Journal of clinical gastroenterology (1985)
    7. [7]
      Female genital tract and Peutz-Jeghers syndrome: an immunohistochemical study.Fetissof F, Berger G, Dubois MP, Philippe A, Lansac J, Jobard P International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists (1985)
    8. [8]
      Peutz-Jeghers syndrome.Griffith CD, Bisset WH Archives of disease in childhood (1980)
    9. [9]
      Gall-bladder polyps in Peutz-Jeghers syndrome.Foster DR, Foster DB Postgraduate medical journal (1980)

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