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

Reference

Kopacova, M., Tacheci, I., Rejchrt, S. and Bures, J. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009; 15(43):5397-5408.