title: Florid oral manifestations in an atypical familial adenomatous polyposis family with late presentation of colorectal polyps.
abstract: Early identification and prophylactic surgery are essential in preventing development of malignancy in colorectal polyps in familial adenomatous polyposis (FAP). Previous studies indicate a 100% cumulative risk of developing colonic polyps in individuals with FAP by the age of 34 yr. However, we have previously reported late-onset and non-penetrance of polyposis in four families. We describe here in detail one of these families with florid oral manifestations detectable on panoramic radiography of the jaws, which were instrumental in the diagnosis of FAP in the index patient and for ascertainment of her family for screening. The pathological adenomatous polyposis coli (APC) gene mutation in this family was shown to segregate with dento-osseous changes. Panoramic jaw radiography is a common examination carried out prior to dental or oral surgical procedures. This case illustrates the importance of appropriate investigations, including family history and colonoscopy, even in relatively older patients with radiological findings such as those described here and in members of their families at risk of FAP.
authors.affiliation: Department of Medical Genetics, Central Manchester Healthcare Trust, St. Mary's Hospital, Manchester, UK.
authors.forename: N S
authors.initials: NS
authors.lastname: Thakker
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: K
authors.initials: K
authors.lastname: Horner
authors.forename: D R
authors.initials: DR
authors.lastname: Davies
authors.forename: J
authors.initials: J
authors.lastname: Armstrong
authors.forename: S
authors.initials: S
authors.lastname: Guy
authors.forename: R
authors.initials: R
authors.lastname: Harris
authors.forename: P
authors.initials: P
authors.lastname: Sloan
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001859:Bone Neoplasms / Q000473:pathology; D003110:Colonic Neoplasms / Q000473:pathology*; D003113:Colonoscopy; D003937:Diagnosis, Differential; D005260:Female; D017491:Genes, APC / Q000235:genetics; D006801:Humans; D008297:Male; D008339:Mandibular Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000473:pathology; D010016:Osteoma / Q000000981:diagnostic imaging / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D011862:Radiography, Panoramic; D012004:Rectal Neoplasms / Q000473:pathology*; D012307:Risk Factors