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.