Case history
Case history #1
A 15-year-old previously healthy female presents to the emergency department with an acute onset of generalized, colicky, abdominal pain and distension, associated with nausea and emesis of 4 hours' duration. Physical exam reveals dark macules on the lips and buccal mucosa. Abdominal exam confirms a tender, distended abdomen with high-pitched bowel sounds and moderate rebound tenderness consistent with small bowel obstruction.
Case history #2
A 40-year-old woman is referred by her radiation oncologist to the medical genetics clinic. She was recently diagnosed with an infiltrating ductal carcinoma of the breast. She gives a previous history of colonic polyps for which she undergoes biannual colonoscopy and 3 to 5 polyps are removed at each exam. The maternal and paternal family history is unremarkable for polyps, and malignant or benign tumors. However, the patient reports that her 10-year-old son has dark brown pigmentation on his lips, and that she also had similar pigmentation as a child.
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