Gardner's syndrome

(W.J. Gardner, 20th century, American physician), syndrome characterized by autosomally dominant, inherited adenomatous polyposis of the colon, colon carcinoma and associated with certain extra colonic lesions. Extracolic polyps are observed in 5 - 7% of cases and involve mainly the stomach and duodenum. Gardners syndrome (GS) is caused by the same mutation of the APC gene as familial adenomatous polyposis (FAP) with a 100% penetrance, but is considered more rare than FAP. There are arguments that FAP, GS and Turcots syndrome are varying expressions of the same disease.

The clinical and radiological features of GS are identical to those of FAP (Fig.1). The extra colonic lesions observed in GS include: multiple osteomas, dental abnormalities, multiple epidermoid cysts and soft fibromas of the skin, desmoid tumours and mesenteric fibromatosis. These extra colonic lesions are present in a variable way among the different affected families but the genetic base for this variable expression is still unknown. The osteomas normally cause no clinical symptoms and have no malignant potential. They may preceed the appearance of polyposis gastrointestinal.

The osteomas are dense cortical lesions, varying in number, seen most commonly in the angle of the mandible, (Fig. 1c) the sinuses and the outer table of the skull. The size of the osteomas may vary between pinpoint and several cm in diameter. Another feature may be diffuse cortical thickening of the long bones.

Desmoid tumours in GS are seen mostly postoperatively with desmoids developing in the surgical scar. The clinical and radiological features of desmoids and mesenteric fibromatosis are basically the same as in patients without GS (see desmoid and fibromatosis. Periampullary and duodenal carcinoma, as well as papillary carcinoma of the thyroid occur more frequently in patients with GS.

ALB