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.