Snapshot A 20-year-old woman presents with fatigue and pallor. On routine blood tests, she is found to have iron-deficiency anemia. On physical exam, she has multiple freckles around her lips and some inside her mucosa. Her primary care physician is concerned that the freckles may not actually be freckles but a lesion of something else. She is referred to a GI doctor, who schedules her for an endoscopy. Introduction Inherited syndrome with login to view 2 more bullets Genetics login to view 2 more bullets Associated conditions login to view 5 more bullets Presentation Symptoms/physical exam login to view 15 more bullets IMAGING Endoscopy with biopsy login to view 6 more bullets STUDIES Complete blood count login to view 1 more bullet Predictive genetic testing offered to at-risk individuals in whom diagnosis is not already clinically apparent by age 8 years, provided a pathogenic STK11 mutation has been identified in an affected family member Differential Diagnosis Familial adenomatous polyposis Juvenile polyposis Cowden syndrome DIAGNOSIS Diagnostic criteria using any of these login to view 4 more bullets Treatment Routine evaluation with cancer screening every 1-2 years Endoscopic resection of polyps login to view 1 more bullet Complications Malignant transformation of macules are rare Increased risk of extraintestinal cancers (from most to least) login to view 3 more bullets Prognosis High risk of malignant transformation of polyps Good with routine screening