Sebastián Véliz

Objectives: To characterize External Crown Resorption (ECR) in patients with Syndromic Amelogenesis Imperfecta (SAI) associated with junctional epidermolysis bullosa (JEB). Materials and Methods: A multicentre retrospective study was conducted at two centers (Germany and Chile). Analyzed variables included dentition, tooth, surface, age, severity, progression, treatment strategy, and clinical outcome. Results: One hundred and seventy teeth affected with ECR (60 primary, 110 permanent) from 30 patients were included. Patients presented an average of 5.7 ± 4.0 affected teeth. Within this cohort, in primary dentition, incisors represented 88% of affected teeth, 8% canines, and 3% molars. In permanent dentition, 62% were incisors, 19% molars, 10% canines, and 9% premolars. Eight teeth showed two independent initiation sites, giving 178 affected surfaces in 170 teeth; 85.4% of these surfaces were incisal/occlusal, 12.9% proximal, and 1.7% vestibular/palatal. Age of detection varied from 8 months to 8.7 years (primary dentition) and from 5.2 to 22 years in permanent dentition. Severity analysis revealed that posterior teeth presented a higher proportion of severely compromised molars (61.9%), while anterior teeth presented a higher proportion of more moderate (57.4% permanent) and mild (37.7% primary) compromise. Observed progression intervals, based on 39 teeth, ranged from 4 months to 9.3 years. Imaging studies, treatment strategies, and their outcomes are presented. Restoration was associated with a lower frequency of further structural loss than preventive strategies alone. A provisional radiographic screening protocol is proposed. Conclusion: ECR can affect primary and permanent dentition, leading to tooth loss if left unrestored. The radiographic screening protocol for early diagnosis and treatment of ECR proposed in this article can aid in preserving teeth.

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, ε ² = 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.

Objectives: Epidermolysis Bullosa (EB) is a rare skin disorder with significant phenotypic variations according to the primary type and subtype of the condition. As a rare disease with uncommon oral features and high phenotypic variability, identifying all characteristics is important to define a patient‐specific treatment strategy and monitor the impact of different strategies on the oral outcomes. This project aims to develop and validate an EB‐specific oral health assessment tool that helps clinicians to identify every specific oral feature that can be presented in patients with different types of EB, and aids in monitoring these features in time. Materials and Methods: Literature review and instrument development were conducted using the World Health Organization Oral Health Assessment Form as a reference. A first advisory panel provided preliminary feedback, and a second panel was used to validate content through an online form. Content Validity Index (CVI), Item CVI (I‐CVI), Scale‐CVI (S‐CVI), Universal Agreement (UA), and a modified Kappa value (K*) were calculated. Results: The instrument: Epidermolysis Bullosa—Oral Health Assessment Form (EB‐OHAF) and its Appendix 1: Orthodontic Assessment were developed. The first draft considered assessing 30 domains. The validation process revealed that 28 domains had an I‐CVI = 1, while domain #XIX (Emergency intervention) had an I‐CVI of 0.875, and domain #XXIII (History of oral ulcers) an I‐CVI of 0.5; S‐CVI/Ave = 0.979 and S‐CVI/UA = 0.93. Universal Agreement was reached in 28 domains (K* = 1), while domain #XIX presented a K* = 0.87, and domain #XXIII showed a K* = 0.312. Therefore, domain #XXIII (History of oral ulcers) was removed from the instrument. The final version of the EB‐OHAF includes a total of 29 domains. The final assessment form and a clinical example are provided. Conclusions: The new Epidermolysis Bullosa—Oral Health Assessment Form and the Orthodontic Assessment appendix showed strong content validity and can be applied to patients with all types of EB.

Introduction: Epidermolysis Bullosa (EB) is a rare genetic condition with skin and mucosal fragility. Patients with EB present extra- and intraoral manifestations that can limit their access to dental treatment, including orthodontic treatment. This research aims to determine the barriers, benefits and complications of orthodontic treatment reported by a group of patients living with EB. Materials and Methods: This observational study included n = 101 patients with a genetic diagnosis of EB. After their regular dental consultation, they were interviewed about factors they considered barriers to accessing orthodontic treatment. Those who underwent orthodontic treatment (n = 24) reflected about their perceived benefits and complications from the therapy. Data were analysed with descriptive statistics and multiple Fisher’s exact tests with false discovery rate (FDR) correction. Results: The most prevalent barrier was that most patients with EB had never been evaluated by an orthodontist (74.3%), even if the teams had an orthodontist. Other barriers included distance to the treatment centre (42.6%), poor oral hygiene (27.7%) and poor oral health status (26.7%). Patients with limited mouth opening perceived greater treatment benefit compared to those without this limitation (φ = −0.28, p = 0.0242), while an increasing age was associated with a reduced perception of treatment benefit (Cramér’s V = 0.29, p = 0.0404). Among those who underwent orthodontic treatment, the most prevalent benefits of orthodontic treatment were aesthetic improvement (62.5%), oral hygiene improvement (20.8%) and occlusal stability (12.5%), while the most prevalent complications were wounds and ulcers (75.0%), gingivitis (54.1%), poor oral hygiene (41.6%) and caries (33.3%). Discussion: People living with EB reported different barriers to orthodontic treatment relating to psychosocial and professional aspects, which vary according to the EB type and severity. The involvement of orthodontists in multidisciplinary special care teams and the reduction in access barriers to dental specialities can be facilitated by a more comprehensive understanding of conditions such as EB.

Introduction: Epidermolysis bullosa (EB) is a rare genetic disease with skin and mucosal fragility. Severe cases present major physical and psychological compromise, contributing to comorbidities and reducing oral health-related quality of life (OHRQoL). Despite a multidisciplinary oral healthcare approach is recommended for EB patients, there is not a specific pathway available in Austria. This study aims to explore the oral health status, oral health treatment needs and OHRQoL in Austrian patients with EB. Materials and methods: A cross-sectional, mixed-methods and exploratory study with purposive sampling was conducted, combining clinical assessment with quantitative and qualitative data by using standardized questionnaires, including OHIP-14, COHIP, iscorEB-p, QOLEB, and open-ended questions. Extraoral and intraoral assessments were conducted, including PhOX as well as oral treatment needs. Quantitative data were analysed descriptively, while qualitative data were subjected to reflexive thematic analysis to explore recurring patterns and themes in participants' experiences. Results: A total of 14 participants with genetic diagnosis of EB were included: EB simplex (EBS, n = 3) and dystrophic EB (dominant, DDEB, n = 1; and recessive, RDEB, n = 10). Participants living with RDEB exhibited poorer quality of life results (iscorEB- p = 39.4; QOLEB = 15.6), across all indexes compared to EBS (iscorEB- p = 17.3; QOLEB = 10.3), as well as worse oral health parameters and higher dental treatment needs. Most participants required preventive (84.6%), restorative treatment (76.9%), or speech therapy (69.2%). Compromised oral function was an important factor in QoL results and oral health assessment, but its improvement was not necessarily corresponding to oral treatment needs. Conclusion: EB, particularly RDEB, has a significant impact on oral health and OHRQoL in Austrian participants. Compromised oral function strongly influences outcomes, but improvements do not always match treatment needs. This underscore the need for multidisciplinary management, including speech therapy, to improve their OHRQoL.

Objective: To determine the oral health status and dental treatment needs in a cohort of children and adults with different types of Epidermolysis Bullosa (EB). Materials and methods: A cross-sectional study was designed. 101 participants with EB (EB Simplex n = 26, Junctional EB = 6, Dominant Dystrophic EB (DDEB) = 20, Recessive Dystrophic EB (RDEB) = 47, Kindler EB = 2) were assessed including simplified debris index (DI-S), Basic Periodontal Examination (BPE), Decay/Missing/Filled Teeth index (DMFT/deft index) and Orthodontic index of complexity, outcome and need (ICON). Treatment needs were classified into preventive, periodontics, restorative, endodontics, orthodontics, prosthodontics, oral surgery, oral pathology, oral radiology, speech therapy and others. Descriptive and statistical analyses were performed. Results: The sample showed a Debris Index of 2.04 ± 0.8, with higher levels in participants with recessive dystrophic EB (2.34 ± 0.7). 15.1% of the total sample ( n = 15) showed a BPE value of 3 or 4. DMFT was 11.2 ± 0.1, while 30.1% ( n = 28/93) showed an ICON value of 43 or higher. Treatment needs were high, with a median of 3 referrals per patient, with the highest needs in restorative dentistry ( n =55, 54.5%), prosthodontics ( n =52, 51.5%), and speech/oral function therapy ( n =43, 42.6%). By EB type, junctional EB (3.67±0.52) and recessive dystrophic EB (3.34±1.03) showed the highest need for referrals. Conclusion: Oral health status among people living with EB differed across major types. Patients with recessive dystrophic EB were associated with poorer oral hygiene, a higher caries experience and more missing teeth, whereas those with junctional EB were associated with a higher number of restored teeth. On the opposite, those with simplex EB and dominant dystrophic EB were associated with more favourable oral health indicator. The greatest referral needs were for restorative dentistry, prosthodontics and speech therapy, with higher referral needs observed among EB subtypes with high risk of oral disease (recessive dystrophic EB, junctional EB and Kindler EB). Older age was associated with periodontics and prosthodontics referral needs, while male participants were associated with a higher need for speech therapy. Clinical relevance: This research seems to indicate that patients with recessive dystrophic EB and junctional EB are at high risk of oral disease, requiring referrals to at least 3 different dental specialities. In addition to paediatric dentists, special care dentists and orthodontists, dental teams caring for patients with EB should include specialists in restorative dentistry and prosthodontics, with access to consultants in speech and language therapy, endodontics and periodontics.

Patients with severe Recessive Dystrophic Epidermolysis Bullosa (RDEB) present facial contractures that hinder the delivery of standard treatment strategies such as occlusal splints for bruxism. Sweat‐induced facial blisters are painful and negatively affect the patient's quality of life. We present the preliminary outcomes of administering BTX‐A in the orofacial region in three patients with RDEB. Case 1, a 15‐year‐old female patient with severe RDEB, severe bruxism and severe microstomia, was first infiltrated with 50U of BTX‐A in the masseters. For the next 4 years, she received yearly infiltrations of BTX‐A, increasing the dosage from 50 to 100U and including the temporalis muscle into the infiltration scheme. Symptoms decreased after 48 h, maximal efficacy after 2 weeks, absence of bruxism‐related pain lasted 5 to 8 months. Patient‐reported outcome: the treatment reduced her daily pain and improved her quality of life significantly. Case 2, a 22‐year‐old male patient with severe RDEB, was treated for bruxism with 50U BTX‐A once, with complete remission of pain‐related symptoms. Case 3, a 19‐year‐old female patient with severe RDEB, was treated for bruxism‐related oral pain with 100U of BTX‐A on the masseters and temporalis. When returning to treatment, the patient reported that BTX‐A infiltrations improved her facial skin, reducing her sweat‐worsened blistering episode. She requested facial BTX‐A infiltration, which was applied over two consecutive years. Patient‐reported outcome: bruxism‐related pain was successfully treated after one BTX‐A infiltration; facial infiltrations reduced her sweat‐worsened facial blisters. She rates her treatment success score as 10/10, as her face is not burning anymore. BTX‐A infiltrations reduced bruxism‐triggered orofacial pain and facial sweat‐worsened blistering with minimal adverse effects. Botulinum toxin is a promising alternative for managing both bruxism in patients with severe microstomia and reducing sweat‐worsened facial blisters in severe RDEB. Further studies are needed to confirm these findings.

Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the FERMT1 (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants. Large deletion variants have been reported in nine cases to date. Most variants are predicted to lead to premature termination of translation and to loss of kindlin-1 function. In this study, we report on a 33-year-old male patient who presented with typical clinical manifestations of KEB. As routine molecular testing failed to obtain a diagnosis, Next Generation Sequencing (NGS) of an Epidermolysis Bullosa (EB)-specific panel was carried out followed by the determination of the deletion breakpoints and verification at the mRNA and protein levels. This approach revealed a new large homozygous deletion of ~9.4 kb in the FERMT1 gene involving exons 7 to 9. Finally, we performed a literature review on large FERMT1 deletions. The deletion is predicted to skip exons 7 to 9 within the mRNA, which results in a frameshift. The patient’s phenotype is likely caused by the resulting truncated and non-functioning protein. Our report further enriches the spectrum of FERMT1 gene variants to improve genotype–phenotype correlations.

Aims: Epidermolysis Bullosa (EB) is a group of rare genetic disorders characterized by fragility and blistering of the skin and mucous membranes. Although there are some studies comparing treatments for oral symptoms, there are few qualitative studies describing the perceived oral impact and the impact on the quality of life (QoL) for those individuals affected. This study explores the self‐perceived oral symptoms when using Dentoxol mouthwash to treat oral lesions in a two‐ and five‐times‐a‐day protocol for individuals living with EB and how this treatment impacts their oral health‐related QoL.Methods: A qualitative study was conducted by interviewing patients with EB participating in the protocol: “Phase II dose‐ranging study of Dentoxol mouthwash for managing oral symptoms in EB”. The information collected was analyzed in depth using ATLAS.ti software and grounded theory approach methodology.Results: Nine patients were interviewed until theoretical saturation was reached. Three main categories were identified, and nine subcategories emerged, reporting that oral lesions in people with EB directly affect their QoL. The use of the mouthwash improved several aspects of daily life, such as nutrition and the reduction of the symptoms associated with oral lesions. It is important to consider a delivery method that suits the needs of people pseudosyndactyly. Most patients preferred to use it 2‐ a day over a 5‐times‐a‐day regime, even though patients with more severe types perceived higher benefits with 5‐times‐a‐day.Conclusions: People living with EB perceived Dentoxol as a valuable tool in healing their oral lesions, improving their ability to eat and speak, directly impacting their overall QoL.Trial Registration: ClinicalTrials.gov identifier: NCT05288478.