Peutz-Jeghers Syndrome

Key points

• Peutz-Jeghers syndrome is an autosomal dominant condition characterised by numerous hamartomatous polyps in the gastrointestinal tract. It is also associated with pigmented freckles on the lips, face, palms and soles.
• autosomal dominant
• responsible gene encodes serine threonine kinase LKB1 or STK11 Features
• hamartomatous polyps in GI tract (mainly small bowel)
• pigmented lesions on lips, oral mucosa, face, palms and soles