9th June 2025

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is an autosomal dominant condition characterised by multiple hamartoma polyps within the gastrointestinal tract and mucocutaneous pigmentation, particularly, on the lips.

Associations

• Hamartomas (most frequently in the small bowel)
• Small bowel obstruction (due to hamartomas)
• Gastro-intestinal bleeding 
• Intussusception 
• Gastro-intestinal cancer (unique hamartoma – adenoma – carcinoma pathway)

Management

There is no specific treatment for Peutx-Jegher syndrome. Management typically involves treatment of complications of the condition (such as removal of gastric or colonic lesions), and regular surveillance for conditions associated with the condition. This includes: gastrointestinal surveillance ± polyp excision, surveillance for extra-intestinal cancers such as; breast, testicular, pancreatic and lung cancer. Intense light therapy has been shown to be effective in treating the mucocutaneous pigmentation.

Image Source: Wikimedia Commons (2018). Peutzjegher Syndrome, Licensed under a creative commons licence. Available for free at: https://commons.wikimedia.org/w/index.php?search=PeutzJeghers&title=Special%3AMediaSearch&go=Go&type=image (Accessed 23 May 2025).