ArticleOral diseases2026
Oral Manifestations in Different Subtypes of Hereditary Epidermolysis Bullosa: A Retrospective Case Series From an Asian Cohort.
Article in Oral diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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7 authors.
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Abstract
objectiveTo delineate oral and genetic features of Asian epidermolysis bullosa (EB) patients in comparison to Western reports.
methodsA 2018-2023 review of 42 EB patients (EBS: 9; DDEB: 9; RDEB: 20; JEB: 4) with confirmed mutations via whole-exome sequencing; oral findings followed standardized assessment.
resultsOf 42 patients (EBS: 9; DDEB: 9; RDEB: 20; JEB: 4), statistically significant differences were observed in oral blistering frequency (p < 0.001), microstomia (p = 0.003), ankyloglossia (p < 0.001), palatal rugae loss (p = 0.003), vestibular obliteration (p < 0.001), and enamel hypoplasia (p = 0.002). Decayed, missing, and filled teeth (DMFT) scores showed no significant differences across subtypes. RDEB patients experienced the most severe mucosal complications, while all JEB patients demonstrated enamel hypoplasia with a high caries burden. Observed genotype-phenotype patterns included frequent blistering in EBS with KRT5 or KRT14 mutations and extensive enamel loss in JEB patients with LAMB3 premature termination codons.
conclusionsOral phenotypes vary significantly by EB subtype and align with previously reported Western cohorts. RDEB and JEB patients require early, tailored dental management to address mucosal fragility or enamel defects. Oral care and transdisciplinary coordination are essential to improving function, nutrition, and long-term outcomes in EB.
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