Peutz Jegher Syndrome

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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Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)