American Journal of Clinical Dermatology

, Volume 11, Issue 2, pp 117–122

Gardner Syndrome

Skin Manifestations, Differential Diagnosis and Management
Review Article Gardner Syndrome

DOI: 10.2165/11311180-000000000-00000

Cite this article as:
Juhn, E. & Khachemoune, A. Am J Clin Dermatol (2010) 11: 117. doi:10.2165/11311180-000000000-00000


Gardner syndrome is a variant of familial adenomatous polyposis (FAP) and results in the manifestation of numerous external and internal symptoms including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts. As such, it is highly recommended that physicians conduct full body examinations to catch the key clinical features of the disease when it is suspected. Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other differential diagnoses such as Turcot syndrome, FAP, and other attenuated forms of familial polyposis. Fortunately, Gardner syndrome has characteristic polyps in the colon, osteomas, and also exhibits abnormalities in the retinal epithelium that discern it from others.

Surgery is the most effective method of management for Gardner syndrome; restorative proctocolectomy with ileal pouch anal anastomosis with mucosectomy is the top choice for colonic malignancies, and skin manifestations can be treated through a variety of excisions and therapy depending on location, size, and number of malignancies. Currently, there are no specific screening recommendations for Gardner syndrome, but testing following general screening recommendations for extra-colonic malignancies, genetic counseling, and endoscopy are encouraged.

Copyright information

© Adis Data Information BV 2010

Authors and Affiliations

  1. 1.Resident PG2 Internal MedicineLos AngelesUSA
  2. 2.Veterans Affairs Medical Center and State University of New York at Downstate, BrooklynBrooklynUSA

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