- pigmented 'freckles' (macules) on lips, face, palms and soles
- hamartomatous polyps in gastrointestinal tract
It is an autosomal dominant condition caused by a mutation of gene LKB1
Complications of PJS include:
- GI haemorrhage
- iron deficiency
- colicky abdo pain
- malignant transformation - around 50% of sufferers will have died from a cancer by the age of 60.
There is no specific treatment.
So lets move on from a relatively benign cause of multiple colonic polyps to a less benign one....