Case Of the Week


Case 32

This is one of the original cases of multiple colonic adenomas with multiple osteomas first diagnosed radiographically by Dr. Henry Plenk a half century ago. This condition is a variation of the familial adenomatous polyposis syndrome resulting from inheritance of a mutation in the adenomatous polyposis coli (APC) gene on chromosome 5. The osteomas are typically found in skull and mandible and less frequently in long bones. Other features include unerupted or supernumerary teeth, epidermal cysts, and fibromatoses. Commonly known as Gardner's syndrome, this condition is best termed Plenk-Gardner syndrome. It is inherited in an autosomal dominant fashion. The risk for colon cancer is so great by the second or third decade that a total colectomy is performed. There is also an increased frequency of thyroid and breast cancer.
Our winner is: Michael Quigley MD, PhD of San Diego, California, USA


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