The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs.

Abstract

A weighted scoring system (Dental Panoramic Radiograph Score) taking into consideration the nature, extent, and site of osseous and dental changes on dental panoramic radiographs in familial adenomatous polyposis is described. The weighting takes into consideration the incidence of the anomaly in the general population. The reliability of the system was tested by application to 85 people known to be affected by clinical or mutation analysis, 30 people lacking mutation in the adenomatous polyposis gene, and 19 people shown to be at low risk (<1%) by linkage analysis. Using the highest thresholds, a specificity of 100% and sensitivity of -68% was obtained. Ifall positive findings were considered as significant, sensitivity was increased to -82% but the specificity was reduced to -88%. Significant DPRS findings were observed at a significantly higher frequency in patients aged over 20 compared to the patients aged 20 and under. Overall, 68% ofthe affected subjects had significant changes, and -18% had normal appearance on DPR, with the remainder having changes classified as minimal or equivocal.(J Med Genet 1995;32:458-464)

APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis

“…They are present in 46% to 93% of FAP patients, an incidence 4 to 20 times higher than in control groups (3% to 16%). (38)(39)(40) In keeping with previous studies, (2) osteomas were located predominantly in the upper and/or lower mandible in our patients, and their presence was positively correlated with the presence of teeth anomalies. (41,42) Patients with scintigraphic evidence of osteoma(s) were, on average, younger than those without osteomas, albeit nonstatistically significantly.…”

Osteomas in a Patient with Familial Adenomatous Polyposis

“…A recent meta-analysis showed that the frequency of osseous jaw and dental anomalies in affected individuals were 65.35% and 30.48%, respectively [14]. There has been growing interest in characterizing these alterations because they may precede CRC and may be used as an early disease diagnostic marker [15][16][17][18][19][20].…”

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

“…Osteomas in the oral and maxillofacial region are typical of Gardner syndrome and have been found in more than 50% of patients with FAP [78] (Fig. 5).…”

“…These benign tumours commonly develop in the paranasal sinuses, the mandible and maxilla. There is a less frequent but significant association with odontomas and supernumerary teeth [78]. Focal increases in bone density within the gnathic bones are also described [78].…”

“…There is a less frequent but significant association with odontomas and supernumerary teeth [78]. Focal increases in bone density within the gnathic bones are also described [78]. All of these features can allow for an early diagnosis of the syndrome.…”