Peutz-Jegher's syndrome

Last reviewed 01/2022

Peutz-Jegher's syndrome is an autosomal dominant condition characterised by:

  • multiple hamartogenous polyps of the gastrointestinal tract - most often in the small bowel but may occur affect any portion of the GI tract
  • mucocutaneous pigmentation - mainly, of the lips, buccal mucosa, genitalia, hands and feet

Patients often present with small bowel intussusception before the age of 10 years.

The polyps themselves have a very low malignant potential. About 10-20% of patients develop gastrointestinal carcinoma but this is thought to arise from coexistent adenomas.

Patients have an increased risk of developing carcinomas of the pancreas, lung, ovary and breast.

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