Peutz-Jeghers syndrome:
• Autosomal dominant syndrome.
• Median age of onset is 11 years.
• Associated with multiple gastrointestinal hamartomatous polyps and mucocutaneous hyperpigmentation.
• More than 50% will have heterozygous loss of -function mutation in the LKB1/STK11 gene.
• Hyperpigmentation takes the form of macules around the mouth, eyes, nostrils, buccal mucosa, palms, and genital and perianal regions.
• They have increased risk of several cancers including colon, pancreas, breast, lung, gonads and uterus.
• Histologic examination demonstrates a characteristic arborizing network of connective tissue, smooth muscle, lamina propria, and glands lined by normal-appearing intestinal epithelium.
• The arborization and presence of smooth muscle intermixed with lamina propria are helpful in distinguishing polyps of Peutz-Jeghers syndrome from juvenile polyps.
