Peutz-Jeghers syndrome

Question 1

What is Peutz-Jeghers syndrome?

Answer 1

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. Although the polyps themselves don’t have malignant potential, around 50% of patients will have died from another gastrointestinal tract cancer by the age of 60 years.

Question 2

Genetics of Peutz-Jeghers syndrome

Answer 2

autosomal dominant

responsible gene encodes serine threonine kinase LKB1 or STK11

Question 3

Features of peutz-jeghers syndrome

Answer 3

hamartomatous polyps in the gastronintestinal tract (mainly small bowel)

• small bowel obstruction is a common presenting complaint, often due to intussusception
• gastrointestinal bleeding

pigmented lesions on lips, oral mucosa, face, palms and soles

Question 4

Management of peutz-jeghers syndrome

Answer 4

conservative unless complications develop