Points to Remember in Peutz-Jeghers Polyp

Peutz-Jeghers Syndrome [PJS] is a rare, familial, autosomal dominant genetic disorder. Hamartomatous polyps of the small intestine are usually a component of PJS, characterized by mucocutaneous hyperpigmentation [> 90% cases] primarily of the lips, nose, oral and gingival mucosae, skin of hands and toes, conjunctiva, and rectum along with gastrointestinal polyposis due to mutation in gene encoding serine/threonine kinase [STK 11] also known as liver kinase B1 [LKB1] on chromosome 19p13.3 in most cases (70-80%). PJ polyp can be sessile or pedunculated and single or multiple and usually occurs before the age of 20 years. The size of polyp usually ranges from few mm to over 7 cm. The polyps are generally benign but can lead to an emergency situation with features of acute abdomen, i.e., pain, constipation/obstipation, nausea, vomiting, abdominal distention, etc. These polyps are derived from glandular epithelium with inter-digitating smooth muscles, which mimics malignant invasion, and patients can be mistakenly treated for small intestine cancer. Patient with small intestinal PJS poly should be kept on endoscopy follow-up from the 8 years of age and repeated every 3 years to limit the morbidity and severity of disease.