Oral and maxillofacial manifestations of familial adenomatous polyposis (Gardner's syndrome): a report of two cases.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
de Oliveira Ribas
Marina
M
Pontifical University of Paraná (PUCPR), Curitiba, Brazil. marina.ribas@pucpr.br
Martins
Wilson Denis
WD
de Sousa
Maria Helena
MH
de Aguiar Koubik
Ana Claudia Galvao
AC
Avila
Lucia Fatima Castro
LF
Zanferrari
Fernando Luis
FL
Martins
Guilherme
G
D000328:Adult; D002648:Child; D042241:Early Diagnosis; D005260:Female; D005736:Gardner Syndrome / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008339:Mandibular Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology*; D008441:Maxillary Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology*; D009669:Nose Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology; D010016:Osteoma / Q000000981:diagnostic imaging / Q000209:etiology*; D011862:Radiography, Panoramic; D012535:Scalp; D012878:Skin Neoplasms / Q000209:etiology; D019292:Skull Base Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology; D014095:Tooth, Impacted / Q000209:etiology