Desmoid Fibromatosis
Mimicking a Periapical Lesion
In a Gardner Syndrome Patient
AUTHORS
Yingci Liu DMD* Kurt Summersgill, DDS Anitha Potluri DMD
University of Pittsburgh,
School of Dental Medicine,
Department of Diagnostic Sciences University of Pittsburgh,
School of Dental Medicine,
Department of Diagnostic Sciences University of Pittsburgh,
School of Dental Medicine,
Department of Diagnostic Sciences
*Corresponding author. Please address
all questions to yii174@pitt.edu
To whom correspondence should be addressed.
Email: yil174@pitt.edu
Address: G-132, 3501 Terrace Street,
Pittsburgh, PA 15261
INTRODUCTION
Gardner syndrome is a variant of familial adenomatous polyp-
osis (FAP), a genetic condition wherein individuals possess
mutations in the adenomatous polyposis coli (APC) tumor
suppressor gene and subsequently, are predisposed to
develop colorectal polyps that eventually undergo malignant
transformation into adenocarcinoma. A diagnosis of Gardner
syndrome is made based on the presence of multiple
colorectal polyps found around the time of puberty, skeletal
and dental abnormalities, and the development of various
benign soft tissue neoplasms. Within the oral cavity, Gardner
patients harbor radio-opacities within the jaws histologically
consistent with osteomas, odontomas and supernumerary
teeth. Suspicion of Gardner syndrome based on clinical
presentations may be confirmed through genetic testing of
the APC gene. 1,2
Although nearly all syndromic individuals develop colonic
adenomas, the frequency of other signs such as osteoma’s
and supernumerary teeth varies. Variable expressivity exists in
Gardner syndrome as one person’s presentation differs from
another individual’s. Table 1 details the most common
systemic and craniofacial characteristics of Gardner
syndrome patients. 1,2
Table 1. Manifestations of Gardner’s Syndrome
Feature Location
Adenomas Colon, adrenal gland
Osteomas Skull, gnathic bones, long bones
Supernumerary teeth, unerupted teeth, odontomas Mandible, maxilla
Epidermoid cysts, fibromas Skin
Desmoid tumors Abdominal cavity, skin, muscle fascia
Angiofibromas Nasal cavity
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) Retina
Malignant lesions Thyroid, pancreas, liver, gallbladder, colon
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