Peutz-Jeghers Syndrome

Question 1

what is petuz-jeghers syndrome?

Answer 1

autosomal dominant condition characterised by numerous hamartomatous polyps in the GI tract

Question 2

what is the genetics of petuz-jeghers syndrome?

Answer 2

autosomal dominant
responsible gene encodes serine threonine kinase (LKB1 or STK11)

Question 3

what are the features of petuz-jeghers syndrome?

Answer 3

• hamartomatous polyps in GI tract (mainly small bowel)
• pigmented lesions on lips, oral mucosa, face, palms and soles

Question 4

what is a common presenting complaint in petuz-jeghers syndrome?

Answer 4

small bowel obstruction (often due to intussusception)

Question 5

how is petuz-jeghers syndrome managed?

Answer 5

conservatively unless complications develop