Peutz Jegher Syndrome is an autosomal dominant condition characterised by:
- hamartomatous polyps in gastrointestinal tract
- pigmented 'freckles' (macules) on lips, face, palms and soles
The only identified mutations causing PJS are of gene LKB1 (also known as STK11)
Complications of PJS include:
- Predisposition to malignancies – over 90% will get a cancer
- Obstruction/intususception
- GI bleeding
- Anaemia
- Abdominal pain
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