What is 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

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition. [1, 2] Patients with Peutz-Jeghers syndrome have an estimated 15-fold increased risk of developing intestinal cancer compared to the general population. [3, 4, 5, 6, 7, 8, 9, 10, 11]  

See the images below.

This upper endoscopy image shows multiple gastric This upper endoscopy image shows multiple gastric polyps.
This is a facial photograph of a patient with Peut This is a facial photograph of a patient with Peutz-Jeghers syndrome. Note the mucocutaneous pigmentation that crosses the vermilion border.
This photograph shows an oral pigmented lesion in This photograph shows an oral pigmented lesion in a patient with Peutz-Jeghers syndrome.

See Clues in the Oral Cavity: Are You Missing the Diagnosis?, a Critical Images slideshow, to help identify the causes of abnormalities of the oral cavity.


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