Go Back Brain/18. More than one of above/Normal, Technique, Anomaly/18.1 - Gardner's syndrome/ Go to Index

In 1859, Charelaigue described the first definitive accounts of adenomatous polyposis in a 16-year-old girl and 21-year-old man.1 In 1951, Gardner first published an article on familial polyposis, in which he described colonic polyposis in a Utah family whose members had 9 deaths due to colon cancer within 3 generations (average age 34 y). Several genetic disorders may present with GI polyps. Individuals with Gardner syndrome (ie, familial adenomatous polyposis [FAP]) (Online Mendelian Inheritance in Man [OMIM] 175100, 135290) develop adenomatous polyps throughout the GI tract accompanied by extracolonic manifestations, including periampullary adenomas, papillary carcinoma of the thyroid, hepatoblastoma, osteomas of the mandible and skull, epidermal cysts, and desmoid tumors (e-medicine).

This patient manifested sebacious cysts, right inferior rectus desmoid, and a posterior fossa colonic metastatic lesion.