Gardner's Syndrome

Abstract

Gardner's syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid). Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner's syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner's syndrome.

The epidemiology of supernumerary teeth and the associated molecular mechanism

“…41 Without treatment, intestinal polyps have a 100% chance of becoming malignant. 42 Usually, finding the tooth anomalies occurs earlier than detecting osteoma and intestinal polyps, so dentists need to be acquainted with these anomalies to diagnose Gardner's syndrome as early as possible.…”

Gardner's syndrome presenting with a fibromatous tumour of the parotid

“…More than 300 mutations have been reported in the literature. The mutation is transmitted by an autosomal dominant mode with high penetrance and variable expression [1]. Gardner's syndrome was first described in the early 1950s as a triad of extradigestive symptoms in patients with FAP: soft tissue cysts, osteomas and dental abnormalities [5,6].…”

“…Intra-abdominal or abdominal wall desmoid tumours are observed in 8.6% of cases. Desmoid tumours are benign fibrous tumours with a high recurrence rate after surgery and a low rate of malignant transformation and metastatic dissemination [1,7,8]. Turcot's syndrome is another clinical variant of FAP associated with central nervous system tumours, mainly medulloblastoma [9].…”

“…Gardner's syndrome is a rare entity with a prevalence ranging between 1/8300 and 1/14,025 [1]. It is defined as the association of familial adenomatous polyposis (FAP) and several types of benign tumours, such as osteomas, fibromas, epidermoid cysts or desmoid tumours, which can constitute the first sign of the disease.…”

A Very Rare Benign Giant Osteoma in Tempero-parieto-occipital Region

“…Only few cases of giant osteomas involving the occipital region 2,3 , posterior skull base 12 , and the atlas 4 have been reported in the literature so far.Etiology of the entity includes trauma, previous surgery, radiotherapy, chronic infection, and hormonal factors 13 . They may be a reliable marker for early detection of carriers of Gardner syndrome 14 . They are mostly asymptomatic, but they can present with deformity, swelling, pain, deafness, and chronic discharge 15 .…”