Peutz-Jeghers Syndrome

Teaching topics from the New England Journal of Medicine - Vol. 357, No. 23, December 6, 2007
Peutz–Jeghers Syndrome

Peutz–Jeghers syndrome is an autosomal dominant disorder caused by a germ-line mutation of the serine/threonine kinase 11 (STK11) gene. Hamartomatous polyps, the hallmark of the disorder, are seen in 88% of all patients. Pigmented mucocutaneous lesions are present in nearly all patients by 2 years of age and most commonly occur on the lips and perioral region, followed by the hands, buccal mucosa, and the feet. The most frequent complication of polyps is intussusception. Patients with Peutz–Jeghers syndrome are also at high risk for intestinal and extraintestinal cancer. The most common cancers are gastrointestinal and breast.

Morning Report Question

Q: What are some causes of intussusception in adults?

A: Causes of small-intestinal intussusception in the adult population include tumors, foreign bodies, unusual endoluminal infections such as ascariasis — and endometrial implants (in females). Of note, only 5% of intussusceptions occur in adults. An underlying cause of intussusception is identified in 90% of adults. Benign and malignant neoplasms account for the majority of cases.