Dermatologic Manifestations of Gardner Syndrome Workup

Updated: Apr 05, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Laboratory Studies

Thyroid screening by physical examination and ultrasonography is recommended in Gardner syndrome. Chromosome studies from peripheral blood lymphocytes and allele-specific expression assay can be performed. Screen all first-degree relatives of patients with Gardner syndrome or FAP.

Most parents believed it was their responsibility to inform young family members about genetic testing results, an often emotionally challenging matter encouraging preventive screening and possible lifestyle adaptions. [25]


Imaging Studies

Imaging studies are essential for screening patients and family members who are affected. Panoramic radiography of the mandible can demonstrate subtle opacities at an early age. Long bone radiographs may demonstrate osteomas or hyperostosis. Ultrasonography is performed to screen for thyroid tumors. Van Epps et al reported seeing epidermal inclusion cysts on a CT scan from a patient with Gardner syndrome. [26]



Perform an ophthalmologic examination at an early age to detect pigmented lesions of the fundus.

Fecal occult blood, sigmoidoscopy/colonoscopy, and upper GI endoscopy are required at least every 1-2 years until the patient reaches age 50 years.


Histologic Findings

Pathologic findings of the epidermoid cysts of Gardner syndrome are similar to findings in non–Gardner syndrome cysts; however, many have pilomatricomalike changes. [23] In 1 study, 63% of cysts examined from 7 patients with Gardner syndrome demonstrated 1 or more matricoma features, such as columns of shadow cells, calcification, and basophilic matrixlike cells in the cyst lining.

The Gardner fibroma, a soft tissue tumor of children and young adults, displays a bland hypocellular proliferation of haphazardly arranged coarse collagen fibers with a bland hypocellular proliferation of inconspicuous spindle cells, small blood vessels, and a sparse mast cell infiltrate. Immunohistochemically, many show nuclear reactivity for beta-catenin and most, if not all, have nuclear reactivity for both cyclin-D1 and C-myc. These fibromas may serve as an indicator for familial Gardner syndrome or similar disorder. [27, 28]