PMC5243902_01
Clinical presentation of the patient. Body scheme showing the distribution of six cafe-au-lait macules (CALMs) (a). Colonoscopy image showing multiple polyps in a section of the left hemicolon (b). Representative CALMs from trunk, note the irregular (cost of Maine shaped) border (c) and right hip (d)
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PMC5243902_01_10689_2016_9925_Fig1_HTML.jpg
Fig1
He had a tubular duodenal adenoma and multiple (>10 larger and uncountable smaller) tubular and tubulovillous adenomas in the colon descendens, sigmoid, and rectum, of which some displayed high grade intraepithelial neoplasia (three points; Fig. 1b). In addition, multiple (n = 6) CALMs on trunk and right hip (two points; Fig. 1a, b, d) and one firm pea-sized nodule located over the left ear, clinically diagnosed as pilomatricoma (one point), were present.