title: [Dental alterations in junctional epidermolysis bullosa--report of a patient with a mutation in the LAMB3-gene].
abstract: During early odontogenesis the basement membrane is known to be important in epithelio-mesenchymal interactions. Mutations in the gene of one of the major structural proteins of the basement membrane such as laminin 5 might therefore be expected either to seriously compromise ameloblast differentiation and/ or interfere with normal basement-membrane formation and degradation and thus the binding of the ameloblasts to their underlying matrix. Teeth of patients suffering from junctional epidermolysis bullosa (JEB) can be severely affected by abnormal dental development and generalized or focal enamel hypoplasia. Those changes are found in 100% of individuals with JEB but the expression is variable. Beside the quantitative alterations, changes in the prismatic structure and orientation of enamel crystals are described. In addition JEB is associated with an increased risk for dental caries, caused by developmentally compromised enamel and external factors such as difficulties in maintaining oral hygiene because of oral lesions or a softer and more refined high caloric diet. Dental care includes three main strategies: Prevention by consequent oral hygiene and reduction of cariogenic nutrition is of paramount importance to minimize caries development; the restoration of enamel and dentin defects with fillings and stainless steel crowns to guarantee structure and function of teeth; and extractions of most severely affected teeth with osteolytic foci to remove continuous sources of oral infections.
authors.affiliation: Universitätskilinik für Dermatologie, Paracelus Medizinische Privatuniversität Salzburg, Osterreich.
authors.forename: Elke
authors.initials: E
authors.lastname: Sadler
authors.forename: Martin
authors.initials: M
authors.lastname: Laimer
authors.forename: Anja
authors.initials: A
authors.lastname: Diem
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.forename: Gabriele
authors.initials: G
authors.lastname: Pohla-Gubo
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Muss
authors.forename: Johannes
authors.initials: J
authors.lastname: Hachleitner
authors.forename: Rudolf
authors.initials: R
authors.lastname: Stadlhuber
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.forename: Helmut
authors.initials: H
authors.lastname: Hintner
mesh_terms: D000328:Adult; D015815:Cell Adhesion Molecules / Q000235:genetics*; D003729:Dental Care; D003731:Dental Caries / Q000209:etiology / Q000517:prevention & control; D003733:Dental Caries Susceptibility; D003744:Dental Enamel Hypoplasia / Q000175:diagnosis / Q000209:etiology; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D011862:Radiography, Panoramic; D012307:Risk Factors; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology*; D000097794:Kalinin
chemical_list: D015815:Cell Adhesion Molecules; D000097794:Kalinin