1. Peutz-Jeghers Syndrome
Chad Manning

2. 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

3. 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)

4. 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

5. Treatment Polyps removed surgically Electrocautery snare
Exams for cancer and treatment

6. References www.netterimages.com/.../ 001/1322-150x150.jpg
Pasternak, Jack J. Human Molecular Genetics. 2nd edition