All::Gastroenterology::Diseases::Peutz-Jeghers syndrome
Intro
What is Peutz-Jeghers syndrome?
hereditary condition characterised by numerous hamartomatous polyps in the gastrointestinal tract (mainly small bowel)
What is the inheritance pattern of Peutz-Jeghers syndrome?
autosomal dominant
What are the main clinical features of Peutz-Jeghers syndrome?
- numerous hamartomatous polyps in the gastrointestinal tract (mainly small bowel)
- pigmented lesions on lips, oral mucosa, face, palms and soles
What is the management of Peutz-Jeghers syndrome?
conservative
What are the main causes of Peutz-Jeghers syndrome?
responsible gene encodes serine threonine kinase LKB1 or STK11
What are the common complications of Peutz-Jeghers syndrome?
- small bowel obstruction is a common presenting complaint, often due to intussusception
- gastrointestinal bleeding
- increased life time risk of GI cancers