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Dermatologic Manifestations of Gardner Syndrome Workup

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
Updated: Jun 08, 2016

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.


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.[18]



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.[16] 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.[19, 20]

Contributor Information and Disclosures

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Warren R Heymann, MD Head, Division of Dermatology, Professor, Department of Internal Medicine, Rutgers New Jersey Medical School

Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Sungnack Lee, MD Vice President of Medical Affairs, Professor, Department of Dermatology, Ajou University School of Medicine, Korea

Sungnack Lee, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.


The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Karen Allen, MD, and Raul Del Rosario, MD, to the development and writing of this article.

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Adenoma-to-carcinoma sequence on a cellular level.
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