Pilot Study of Whole Genome Deep Sequencing of the Oral Microbiome in Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a rare genetic disease often requiring extensive dental interventions. Whole genome sequencing of the oral microbiome may provide essential information on the pathogenic shifts reported in the literature, resulting in significant plaque development. Three EB patients had a proprietary whole genome sequencing completed. The samples were deidentified and compared to a library of 30,000 bacterial genomes. The oral microbiome of the three individuals was significantly different from normotypical samples. Although a commonality was presented between the three individuals, differences were also noted. Neisseria sicca is present across all samples with relatively high percentiles (>95th percentile in all 3). Streptococcus mitis is also present in all samples, with its percentile and abundance differing significantly. With one sample, BHU, Morococcus cerebrosus was the top species with 19.74% relative abundance (100th percentile), an outlier compared to the other samples and present in the highest concentration yet noted in the database. All three samples had at least one Actinomyces species in the 70th percentile or greater. Within the limitations of this small sampling, the oral microbiome of patients with Epidermolysis bullosa may be unique and require further investigation with the study of preventatives capable of inhibiting inflammation and overgrowth of pathogens.