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Peutz-Jeghers Syndrome . Chad Manning. Background. Autosomal dominant 1/25000 affected worldwide 70% familial cases 50% sporadic cases mutated in the STK11 gene 16p13.3 encoding for serine/threonine kinase 11 Relationship is unknown. Clinical Features.

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Peutz-Jeghers Syndrome


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background
Background
  • Autosomal dominant
  • 1/25000 affected worldwide
  • 70% familial cases 50% sporadic cases mutated in the STK11 gene
  • 16p13.3 encoding for serine/threonine kinase 11
  • Relationship is unknown
clinical features
Clinical Features
  • Benign growths (polyps) in small intestine (stomach/bowel)
  • Abdominal pain and internal bleeding
  • Breast, testicular, pancreatic cancers
  • Dark-brown or dark-blue spots on lips, gums, inside mouth, around mouth, eyes, nostrils (mucocutaneous macules)
diagnosis
Diagnosis
  • Gastrointestinal polyps and pigmented spots
  • X-irradiation of abdomen or endoscopy detects polyps
  • Polyps have distinct shape and histological composition
  • DNA test available for asymptomatic individuals
treatment
Treatment
  • Polyps removed surgically
  • Electrocautery snare
  • Exams for cancer and treatment
references
References
  • www.netterimages.com/.../ 001/1322-150x150.jpg
  • www.edu.rcsed.ac.uk
  • Pasternak, Jack J. Human Molecular Genetics. 2nd edition. 2005.