Friday, 24 September 2010

MRCP revision battle 19.3: Peutz Jegher Syndrome

Peutz Jegher Syndrome is a condition characterised by:
  • 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:
  • obstruction/intususception
  • 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....