188 - Peutz–Jeghers syndrome

Abstract

Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal polyps, hamartomas, and brown to black macular mucocutaneous pigmentation. PJS should be viewed as a cutaneous sign of internal disease due an increased risk of intussusceptions and intestinal and other malignancies. Clinically and histologically, its pigmented macules are simple lentigines typically found on the lips and oral mucosa but which may involve epithelium around the eyes, nostrils, and anus and/or the dorsal or volar aspects of the hands and feet. Most patients have a germline mutation of the serine/threonine kinase 11 (STK11/LKB1) tumor suppressor gene, located at chromosome 19p13.3. Genetic testing may be useful in equivocal cases as well as in counseling at-risk families.