Case history
Case history #1
A 12-year-old girl with a family history of familial adenomatous polyposis (FAP) syndrome in her father and paternal grandmother presents for clinical evaluation. Her father's adenomatous polyposis coli mutation status has not been determined at his request. She is asymptomatic but her father is requesting that she be evaluated for FAP. Her 18-year-old brother has undergone sigmoidoscopy once at 14 years of age during which no polyps were identified. He has not undergone any further testing. Physical exam reveals no abnormalities.
Case history #2
A 25-year-old man presents with one episode of hematochezia. He is concerned because his mother died of colorectal cancer at 50 years of age. He has no further information about his family history. Physical exam is normal. He undergoes colonoscopy and is found to have 20 adenomas ranging in size from 4 to 15 mm.
Other presentations
Extraintestinal features of FAP may include supernumerary teeth, osteomas, epidermoid cysts, lipomas and fibromas, desmoid tumors, thyroid nodules and cancer, adrenal adenomas, and congenital hypertrophy of the retinal pigment epithelium.[10]
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