Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts

Abstract

Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.

Desmoid Tumor of the Breast as a Manifestation of Gardner’s Syndrome in an Elderly Woman: A Case Report and Review of Literature

“…It represents a multisystemic disease with a variety of symptoms and often diagnosis is delayed. Usually, the cutaneous and bone abnormalities manifest earlier than polyposis[5]. However, in our case, the polyps were diagnosed five years before the extracolonic manifestations.…”

A Rare Case Report of Epidermoid Cyst in Palatine Tonsil

“…These cysts can be associated with certain hereditary syndromes like Gardner syndrome caused by mutations in the adenomatous polyposis coli gene, or in Lowe syndrome, an X-chromosomal oculo-cerebral-renal disorder caused by muta-tions of the OCLR1-gene. 13,14 The differential diagnosis of tonsillar mass are tonsillar tumors, tumors of parapharyngeal space, infections and inclusion cyst. 2 Histopathologically we can easily differentiate these entities, hence gross and microscopical examination of every resected tonsillar mass is important.…”

Gardner Syndrome: Complications/Manifestations in the Oral Cavity and Their Relationship with Oral Health

“…Some studies also report that 68-82% of GS patients have osteomas, consisting of a benign lesion of well-differentiated mature bone tissue with predominantly laminar structure [15][16][17]. The presence of multiple lesions is usually common in GS patients, being the most common site the mandible.…”

“…The presence of multiple lesions is usually common in GS patients, being the most common site the mandible. However, osteomas may also develop in the maxilla and skull [15,18]. Central or lobulated osteomas can be seen in the mandible and, while central osteomas appear near the root of the teeth, lobules appear in the cortex and are more common in the mandibular angle [19].…”