Oral Manifestations in Different Subtypes of Hereditary Epidermolysis Bullosa: A Retrospective Case Series From an Asian Cohort.

OBJECTIVE

To delineate oral and genetic features of Asian epidermolysis bullosa (EB) patients in comparison to Western reports.

METHODS

A 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.

RESULTS

Of 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.

CONCLUSIONS

Oral 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.