What are the diagnostic criteria for Peutz-Jeghers syndrome (PJS)?

Updated: Oct 11, 2018
  • Author: Buu Anh T To, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Answer

Well-established clinical diagnostic criteria are noted for Peutz-Jeghers syndrome. One set includes the following elements: three histopathologically proven Peutz-Jeghers syndrome polyps with the classic mucocutaneous pigmentation and a positive family history. [74]

The diagnostic criteria for Peutz-Jeghers syndrome proposed by the Johns Hopkins Registry include histopathologically verified hamartomatous polyps with at least two of the following [75] :

  • Small-bowel location for polyposis
  • Mucocutaneous melanotic pigmentation,
  • Family history of Peutz-Jeghers syndrome [3]

World Health Organization (WHO) diagnostic criteria includes any of the following [76] :

  • Three or more histologically confirmed Peutz-Jeghers polyps, or
  • Any number of Peutz-Jeghers polyps with a family history of Peutz-Jeghers syndrome, or
  • Characteristic, prominent, mucocutaneous pigmentation with a family history of Peutz-Jeghers syndrome, or
  • Any number of Peutz-Jeghers polyps and characteristic, prominent, mucocutaneous pigmentation

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