title: Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description.
abstract: Familial Adenomatous Polyposis (FAP) and its phenotype variant, Gardner's syndrome, constitute a rare autosomal dominant inherited disorder. They are characterised by the development, generally during the second and third decades of life, of multiple adenomatous polyps in the colon and rectum. These polyps have a high risk of subsequently becoming malignant, which normally occurs in the third and fourth decades of life. The phenotypical features of FAP can be very variable. As well as colorectal polyps, these individuals can present with extra-colonic symptoms, among which are particularly: gastro-duodenal polyps, dermoid and epidermoid cysts, desmoid tumours, congenital hypertrophy of the retinal pigment epithelium, disorders of the maxillary and skeletal bones and dental anomalies. In this paper the most important aspects of this syndrome are reviewed, showing an example based on a well documented clinical case. The importance of odonto-stomatological examinations should be pointed out, among others, as a means of reaching a presumptive diagnosis, whose confirmation is vital to the patient.
authors.affiliation: Facultad de Odontología, Universidad de Barcelona, Spain. 13598eck@comb.es
authors.forename: Eduardo
authors.initials: E
authors.lastname: Chimenos-Küstner
authors.forename: Montserrat
authors.initials: M
authors.lastname: Pascual
authors.forename: Ignacio
authors.initials: I
authors.lastname: Blanco
authors.forename: Fernando
authors.initials: F
authors.lastname: Finestres
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000328:Adult; D002485:Cementoma / Q000175:diagnosis / Q000209:etiology; D018389:Codon, Nonsense; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D004814:Epidermal Cyst / Q000175:diagnosis / Q000209:etiology; D005260:Female; D005350:Fibroma / Q000175:diagnosis / Q000209:etiology; D005736:Gardner Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D017491:Genes, APC; D006801:Humans; D006984:Hypertrophy; D007573:Jaw Neoplasms / Q000175:diagnosis / Q000209:etiology*; D010016:Osteoma / Q000175:diagnosis / Q000209:etiology*; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000002:abnormalities; D011379:Prognosis
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D018389:Codon, Nonsense