Dentofacial Characteristics in Patients With Epidermolysis Bullosa-A Cross-Sectional Study

Epidermolysis bullosa (EB) is a rare genetic disease characterized by skin and mucosal fragility caused by pathogenic variants in structural protein genes. Malocclusions have been previously described in patients with EB, mainly in case reports, with no cohort studies characterizing dentofacial characteristics across all EB types. This study aims to describe and compare the dentofacial characteristics of patients with EB across all types in a nationally representative cohort.

A cross-sectional study examined 101 patients with genetically confirmed EB diagnosis at a national reference center (2023 and 2024). Occlusal and extraoral characteristics were assessed by calibrated examiners (Cohen's Kappa: Intrarater 0.925, Interrater 0.931), including overjet, Angle's molar class, overbite, midline deviation, posterior transverse relationship, dental anomalies, crowding, facial profile, type, and symmetry. Associations were examined using Fisher's exact test with Cramér's V as effect size measure, and Kruskal-Wallis test with epsilon-squared; p values were adjusted using the Benjamini-Hochberg false discovery rate procedure.

The sample included: EB simplex (EBS, n = 26), junctional EB (JEB, n = 6), dominant dystrophic EB (n = 18), recessive dystrophic EB (RDEB, n = 49), and kindler EB (n = 2). RDEB presented the highest prevalence of posterior transverse anomalies (74.5%, 95% CI 60.5-84.7; Cramér's V = 0.504, p[FDR] < 0.001) and altered overbite (Kruskal-Wallis p = 0.022, ε² = 0.106), with a significant difference compared to EBS (post-hoc adjusted p = 0.022). All participants with JEB presented dental anomalies (100%, 95% CI 61.0-100.0; Cramér's V = 0.762, p[FDR] < 0.001). 53.1% of RDEB participants presented three or more dentofacial features coherent with growth restriction.

Dentofacial anomalies vary according to the EB type. RDEB showed the highest prevalence of posterior transverse anomalies and altered overbite, and JEB presented universal dental anomalies. These findings support prioritizing and tailoring orthodontic screening by EB type. Future studies should address genotype-phenotype correlations, multicentre designs, and the relationship between dentofacial anomalies and orofacial functional impairments.