Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome Genetics

Peutz-Jeghers Syndrome is caused by mutations in protein kinase LKB1 gene found on chromosome 19p. It is a heritable small bowel polyposis consisting of multiple hamartomatous polyps, and present with abnormal mucocutaneous pigmentation of the perioral, buccal, and perianal regions. Peutz-Jeghers Syndrome complications include bleeding, anemia, and intussesception due to the polyps is common. Tumors are rare, however.

Comments are closed.