Do mutations in the basement membrane zone affect the human periodontium? Review with special reference to epidermolysis bullosa.
Epidermolysis bullosa (EB) is a group of diseases characterized by the development of blisters or erosions following minor trauma to the skin. Oral findings that have been associated with EB include keratin-filled cysts; blistering of the mucosa, tongue, and lips; perioral carcinomas; ankyloglossia; lingual papilla atrophy; caries; enamel hypoplasia; rapid attrition of the teeth; and obliteration of the oral vestibule. Defects at the basal cell/basement membrane/connective tissue levels correspond to the mutations in basal cell keratins, hemidesmosome components, and type VII collagen, respectively. In a number of types of EB, structural defects in the skin have been shown and genetic mutations determined. Although there are no publications documenting the prevalence of periodontal diseases in patients with epidermolysis bullosa, it is likely that some molecular defects in the basement membrane zone could increase the susceptibility of a patient to periodontal disease, as this has been noted in the related disorder of Weary-Kindler syndrome. Early-onset periodontal disease can be expected to develop in some types of EB patients, even in the absence of common periodontal pathogens, because of a reduced resistance at the junctional epithelial complex.
Wiebe
C B
CB
Department of Oral Biological and Medical Sciences, University of British Columbia, Vancouver, Canada.
Larjava
H S
HS
D001485:Basement Membrane / Q000737:chemistry / Q000473:pathology*; D003094:Collagen / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000145:classification / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D004846:Epithelial Attachment / Q000473:pathology; D006801:Humans; D016023:Integrins / Q000235:genetics; D007797:Laminin / Q000235:genetics; D009154:Mutation; D010510:Periodontal Diseases / Q000209:etiology / Q000235:genetics*; D010641:Phenotype
D016023:Integrins; D007797:Laminin; D003094:Collagen