Epidermolysis bullosa (EB) is characterized by mechanical fragility of the skin which can result in blistering of any epithelial surface with subsequent scar formation and contractures. The 20 to 25 distinct types of EB are classified into three major subgroups based on the tissue cleavage plan: epidermolytic (EB simplex), lamina lucidolytic (junctional), and dermolytic (dystrophic and acquired EB). The lamina lucidolytic and dermolytic forms have been associated with enamel hypoplasia, rampant dental caries, and oral blister formation with subsequent scarring and compromised oral function. Little is known regarding the oral manifestations of the epidermolytic forms or specific subtypes. The long term objective of this proposal is to determine the ultrastructural and biochemical dental abnormalities and prevalence of oral disease in each EB subtype so that appropriate oral health care measures can be developed.
The specific aims of the study are to characterize and quantitate the soft and hard oral tissue manifestations of the EB diseases; to determine the prevalence and relationship of ultrastructural changes in teeth from EB patients; and characterize the enamel proteins in each EB subtype. The proposed study is a combined clinical and laboratory investigation. Individuals participating in the Southern Clinical Center for the National EB Registry will be evaluated and diagnosed using clinical assessment, pedigree analysis, and ultrastructural and immunofluorescence tissue mapping. Systemic and oral soft tissue involvement will be recorded and the dentition assessed for tooth morphology, enamel hypoplasia, occlusion, and dental caries experience. Clinical examinations will be documented with extra-oral and intra-oral photographs. Extracted and exfoliated teeth will be collected from participants for histologic evaluation of the enamel, dentin and cementum. Ultrastructural dental anomalies will be characterized using light microscopy and scanning electron microscopy. Enamel replicas will be fabricated on each participant allowing surface pitting or enamel defects to be delineated for each EB subtype. Enamel proteins will be characterized using amino acid analysis and SDS PAGE electrophoresis in both EB and healthy enamel using extracted and exfoliated teeth. This study will provide the first objective assessment of the oral involvement in EB and provide the knowledge necessary to establish diagnostic criteria, predict prognosis, and better understand the development of enamel.
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