Oral and Maxillofacial Manifestations of Familial Adenomatous Polyposis (Gardner's syndrome): A Report of Two Cases

Abstract

Aim The aim of this case report is to emphasize the importance of an early diagnosis of Gardner's syndrome through the detection of lesions appearing in the oral and maxillofacial area as well as to present two cases of the disease. Background Gardner's syndrome is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine, along with multiple osteomas, skin, and soft tissue tumors. Cutaneous findings may include desmoid tumors, epidermoid cysts, and other benign tumors. Early diagnosis and therapy of the disease are critical because polyps have a 100% risk of undergoing malignant transformation. Craniomaxillofacial manifestations (osteoma formation, tooth impaction, diffuse opacities in the skull, mandible and maxilla, scalp tumors) usually precede polyposis. Report Case 1: Gardner's syndrome was diagnosed in a 25-year-old Caucasian man who was referred by his endodontist for evaluation of an uncommon radiographic image in the mandibular molar area. Further investigation revealed a familial adenomatous polyposis (FAP) complicated by adenocarcinoma of the colon. A colectomy and an ileorectal anastomosis were performed. Case 2: A 12-year-old Caucasian girl, who is a niece of the patient described in Case 1, presented with progressive difficulty with mouth opening but no complaints of digestive problems. Radiographic examination revealed multiple radiopacities in the maxilla, mandible left temporomandibular joint, and in the left mandibular angle. Multiple impacted teeth were present. A colonoscopy was suggested, but the patient's parents decided to continue the investigation and treatment with their own physician in their home town. Summary Since an early diagnosis is essential and general dental practitioners may be the first healthcare professionals to suspect the diagnosis, it is important for them to be familiar with the features of Gardner's syndrome. Citation de Oliveira Ribas M, Martins WD, de Sousa MH, de Aguiar Koubik ACG, Ávila LFC, Zanferrari FL, Martins G. Oral and Maxillofacial Manifestations of Familial Adenomatous Polyposis (Gardner's syndrome): A Report of Two Cases. J Contemp Dent Pract 2009 January; (10)1:082-090.

A rare case of Gardner syndrome in an African adult male: A case report

“… 46 The dental characteristics found in the syndrome have been described as being secondary to osteomas or other causes 36 Oftentimes, maxillofacial features are the first to appear. 31 , 37 , 47 …”

“…46 The dental characteristics found in the syndrome have been described as being secondary to osteomas or other causes 36 Oftentimes, maxillofacial features are the first to appear. 31,37,47 More than 90% incidence of osteoma is reported in patients with GS, and the average number of bone lesions ranges between 2.9 and 4.7. 35 It is more common in females, predominantly in the second and third decades of life.…”