A Case Report of Gardner’s Syndrome: A Familial Adenomatous Polyposis Variant

Abstract

Introduction: Gardner syndrome is a rare autosomal dominant clinical variant of familial adenomatous polyposis. It is characterized by the prominence of inherited colonic adenomatosis together with osteomas, epidermoid cysts, desmoid tumors, and dental abnormalities. Along with familial adenomatous polyposis, Gardner syndrome can be explained by the mutation of the APC gene on chromosome 5q21-q22. In addition, the specific mutation of the MYH gene on chromosome 1p34.3-p32.1 may determine the extra-colonic manifestations found in Gardner syndrome, as well as the number, time frame, and malignant potential of the disorder. Due to its rarity, the exact prevalence of Gardner syndrome is unknown, as its statistical prevalence cannot be separated from familial adenomatous polyposis when considering reported studies. Estimates for the prevalence of the combined syndromes vary from 1 in 6,850 to 1 in 31,250 individuals. In this case report, we will present a patient with a prior diagnosis of Gardner syndrome who was seen for screening EGD and colonoscopy, and was found to have enlarging bilateral formed painful breast masses. In addition, the patient was also found to have various lesions biopsied and removed in the past, but continues to have clinically detectable cranial lesions and soft tissue lesions. Right breast mass needle biopsy performed and pathology resulted with fibrous tissue proliferation consistent with desmoid and fibromatosis. EGD resulted in innumerable number of polyps within the cardia, fundus, and proximal aspect of the greater curvature, as well as several large polyps in the second portion of the duodenum. Colonoscopy resulted in innumerable number of polyps throughout the colon from the rectum to the cecum. Polyps were biopsied during both exams, and pathology returned with an inflammatory, hyperplastic polyp in the stomach and tubular adenomas in the duodenum, cecum, and colon. Patients with Gardner syndrome and any familial adenomatous polyposis encompassing disease will require regular screening for numerous neoplastic transformations, as presented in this case. A prophylactic colectomy recommendation is unavoidable, and should be made early within the disease course in order to decrease patient’s risk of colorectal cancer formation. After surgical prophylaxis has been conducted, patients will continue to require lower gastrointestinal surveillance at anastomosis site, based on which surgical operation was performed, as well as lifetime upper gastrointestinal screening at varying intervals based on the Spigelman classification. Strict follow-up and surveillance guidelines remain a vital component to the treatment of these patients in order to reduce their lifetime morbidity and mortality.