Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits, multiple gastrointestinal hamartomatous polyps, and an increased risk of various neoplasms.

Synopsis

 hyperpigmented macules of lips and buccal mucosa
 clubbing of fingers
 hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips
 ovarian cysts

 hamartomatous polyps

• nasal polyps
• bronchial polyps
• biliary tract polyps
• gastrointestinal hamartomatous polyps (stomach to rectum) (Peutz-Jeghers polyp)
• ureteral polyps
• bladder polyps

 digestive tumors (2%-20%)

• digestive adenocarcinomas

 non-digestive tumors (relative risk x15.2)

• astrointestinal carcinoma
• breast carcinoma (ductal)
• thyroid carcinoma
• lung carcinoma
• pancreatic carcinoma
• uterine carcinoma
• Sertoli cell testicular tumor
• ovarian sex cord tumors with annular tubules (SCTAT)
• biliary vesical carcinoma (gallbladder carcinoma)
• bronchial adenoma
• biliary hamartoma

Etiology

 Locus 19q13.3: germline mutations mutations in the serine/threonine kinase STK11 gene (or LKB1 gene) (MIM.602216)
 Locus 19q13.4 (#15287029#)