All::Gastroenterology::Diseases::Peutz-Jeghers syndrome

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What is Peutz-Jeghers syndrome?

hereditary condition characterised by numerous hamartomatous polyps in the gastrointestinal tract (mainly small bowel)

Peutz-Jeghers syndrome

What is the inheritance pattern of Peutz-Jeghers syndrome?

autosomal dominant

Peutz-Jeghers syndrome

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

Peutz-Jeghers syndrome

What is the management of Peutz-Jeghers syndrome?

conservative

Peutz-Jeghers syndrome

What are the main causes of Peutz-Jeghers syndrome?

responsible gene encodes serine threonine kinase LKB1 or STK11

Peutz-Jeghers syndrome

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

Peutz-Jeghers syndrome