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

IF 2.4 Q3 DENTISTRY, ORAL SURGERY & MEDICINE

Clinical and Experimental Dental Research Pub Date : 2026-10-06 DOI:10.1002/cre2.70478

Sebastián Véliz, Susanne Krämer, Colomba Besa-Witto, Pedro Diz-Dios

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Abstract

Objectives

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.

Material and Methods

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.

Results

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.

Conclusions

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.

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大疱性表皮松解症患者牙面特征的横断面研究。

目的：大疱性表皮松解症（Epidermolysis bullosa， EB）是一种罕见的遗传性疾病，其特征是由结构蛋白基因的致病性变异引起皮肤和粘膜脆弱。以前曾在EB患者中描述过错牙合，主要是在病例报告中，没有对所有EB类型的牙面特征进行队列研究。本研究旨在描述和比较全国代表性队列中所有类型EB患者的牙面特征。材料和方法：一项横断面研究在国家参考中心（2023年和2024年）检查了101例遗传确诊的EB患者。通过校准的检验员（Cohen's Kappa: Intrarater 0.925, Interrater 0.931）评估咬合和口外特征，包括覆盖、Angle的磨牙类别、覆盖咬合、中线偏差、后横关系、牙齿异常、拥挤、面部轮廓、类型和对称性。采用Fisher精确检验和Kruskal-Wallis检验，分别以cramsamrs V作为效应大小测量；使用Benjamini-Hochberg错误发现率程序调整p值。结果：单纯性EB （EBS, n = 26）、连接型EB （JEB, n = 6）、显性营养不良型EB （n = 18）、隐性营养不良型EB （RDEB, n = 49）、点燃型EB （n = 2）。RDEB的后横突异常发生率最高（74.5%,95% CI 60.5-84.7; cram’s V = 0.504, p[FDR] 2 = 0.106），与EBS相比有显著差异（事后校正p = 0.022）。所有JEB患者均出现牙面异常（100%,95% CI 61.0-100.0; cram’s V = 0.762, p[FDR]）。结论：EB型患者牙面异常不同。RDEB以后横畸形和覆咬改变的发生率最高，而JEB则表现为普遍的牙齿异常。这些发现支持根据EB类型进行优先排序和定制正畸筛查。未来的研究应解决基因型-表型相关性、多中心设计以及牙面异常与口面部功能障碍之间的关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical and Experimental Dental Research DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

3.30

自引率

5.60%

发文量

165

审稿时长

26 weeks

期刊介绍： Clinical and Experimental Dental Research aims to provide open access peer-reviewed publications of high scientific quality representing original clinical, diagnostic or experimental work within all disciplines and fields of oral medicine and dentistry. The scope of Clinical and Experimental Dental Research comprises original research material on the anatomy, physiology and pathology of oro-facial, oro-pharyngeal and maxillofacial tissues, and functions and dysfunctions within the stomatognathic system, and the epidemiology, aetiology, prevention, diagnosis, prognosis and therapy of diseases and conditions that have an effect on the homeostasis of the mouth, jaws, and closely associated structures, as well as the healing and regeneration and the clinical aspects of replacement of hard and soft tissues with biomaterials, and the rehabilitation of stomatognathic functions. Studies that bring new knowledge on how to advance health on the individual or public health levels, including interactions between oral and general health and ill-health are welcome.