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Peutz-Jeghers Syndrome

February 10, 2010

Pathophysiology

1) inherited disorder marked by numerous GI polyps (usually in small bowel but occasionally from stomach to rectum) and mucocutaneous pigmentation 2) heavy freckles on the face, hands, feet, and perineal areas usually fade at puberty but the buccal (mouth) pigmented spots do not 3) although the polyps are considered benign, 2-3% of patients develop adenocarcinoma in the small bowel

Signs and Symptoms

1) abdominal obstruction 2) intussusception

Histology/Gross Pathology

polyps are hamartomas with smooth muscle and intestinal glands

Associated Conditions

increased risk of – 1) pancreatic cancer 2) breast cancer 3) ovarian cancer 4) endometrial cancer 5) testicular cancer

Biochemistry

affected gene codes for serine threonine kinase

Inheritance/Epidemiology

1) autosomal dominant 2) affected gene is LKB1 on chromosome 19

Treatment

close surveillance for development of adenocarcinoma

Tips for USMLE

1) if question mentions a 10 year-old boy with heavy freckles, including inside his mouth, and his freckles do not fade with age, think Peutz-Jeghers 2) the other common disease with pigmented intraoral lesions is Addison’s disease

Related Posts

Turcot’s Syndrome

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