History
Adequate screening is a necessity to avoid legal action. Patients must be screened properly to prevent development of cancer once the diagnosis of Gardner syndrome is made.
Physical Examination
Osteomas of the skull and the mandible are often present as painless bony overgrowths. These can often be detected before the colonic manifestations. Multiple osteomas may be a clue to the physician that Gardner syndrome is present.
Dental abnormalities include supernumerary teeth and odontomas and are typically diagnosed by physical examination of the mouth and teeth. However, they may only be detected on plain radiography.
Multiple epidermal cysts are often present and are another easily visible clue to the physician that colorectal disease may be present as well. They are commonly found on the face, scalp, and arms, but can occur anywhere on the skin surface. These cysts are benign but may pose a cosmetic concern for the patient.
Fibromatosis may present as an abdominal mass that is easily detected by palpation of the abdomen.
Congenital hypertrophy of the retinal pigmented epithelium is easily detectable by slit-lamp examination. It is a flat pigmented lesion on the retina. Oftentimes, they may be present bilaterally. These lesions do not cause clinical problems.
Thyroid carcinoma may present as a painful or painless mass in the thyroid, sometimes palpable on physical examination.
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Colon, polyposis syndromes: polyposis coli. Postevacuation image obtained after double-contrast barium enema study shows extensive polyposis of the colon.
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Endoscopic images showing multiple large intestinal polyps in a patient with Gardner syndrome. Courtesy of Christina Surawicz, MD, Harborview Medical Center, Seattle, Wash.
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Surgical specimen of the colon in a patient with familial polyposis after total colectomy with ileoanal anastomosis. Note the carpetlike appearance of the mucosa covered with polyps.
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High-power view of a tubular adenoma. Courtesy of G. Warren, MD, Rose Medical Center, Denver, Colo.
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Villous adenoma showing fingerlike projections stretching from the surface of a polyp downward with minimal branching. Courtesy of D. Owen, MD.
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Plain lateral skull radiograph in a patient with known Gardner syndrome shows a large osteoma in the occipital region (arrows).
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Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
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Cyst containing keratinous material (hematoxylin and eosin, original magnification X1.6).
