Perception of Oral Health–Related Quality of Life in Children with Epidermolysis Bullosa: A Quantitative and Qualitative Study

Abstract

Epidermolysis bullosa (EB) is a group of rare skin diseases that can strongly affect the oral mucosa. The aim of the study was to describe the perception of oral health– related quality of life (OHRQoL) in children living with EB. A quantitative and qualitive study was conducted. First, a quantitative analysis was used to compare the Child Oral Health Impact Profile (COHIP) scores of 23 patients living with EB to normative values. Second, a qualitative approach was taken to help understand the oral health experience of 10 children (aged 5–17 y) living with EB until thematic saturation was reached. For every COHIP domain, the scores were significantly lower in patients living with EB than in healthy patients (P = 0.001). The thematic analysis provided several themes: young patients suffer from EB oral complications, with which they deal in different ways; they experience functional disorders, mainly in eating and speaking; and they also require esthetic dental care. The results of this mixed-method study show that, from the perspective of affected children, that EB affects OHRQoL. Using the children’s own words makes it possible to understand both the difficulties they face and their ability to adapt to these difficulties. Their words also show us what they want from the treatment and help us to identify means of improving practices. Knowledge Transfer Statement: The results of this study confirm the difficulties experienced by patients in the oral sphere. They also show that patients are able to adapt and that their demands go beyond functional rehabilitation. This work should encourage dental practitioners to be part of the overall management of the disease, involving regular checkups, preventive dental measures, and oral hygiene education. Therefore, more effective communication is required, not only between the dental and dermatological teams but also with the parents and caregivers.

HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta

“…AI may be dismissed by non-experts as resulting from poor dental hygiene, especially in children with EB, who have considerable difficulty in maintaining oral hygiene for multiple reasons. 49 …”

“…AI may be dismissed by non-experts as resulting from poor dental hygiene, especially in children with EB, who have considerable difficulty in maintaining oral hygiene for multiple reasons. 49 To summarise, we identified 17 families with AI due to pathogenic/likely pathogenic heterozygous variants in the COL17A1 gene, and a further 2 families with variants of unknown significance in COL17A1 that may also be pathogenic. These findings suggest that the significance of COL17A1 variants as a cause of AI has not been fully appreciated and this may in fact be a relatively common form of dominantly inherited AI.…”

Dental implant survival in epidermolysis bullosa patients: A systematic review conducted according to PRISMA guidelines and the Cochrane handbook for systematic reviews of interventions

“…In addition to the inherited genetic forms, there is a variant called acquired epidermolysis bullosa [ [5] , [6] , [7] , [8] ]. It is classified as an autoimmune bladder-forming disease caused by autoantibodies against type VI collagen in the dermo-epidermal junction.…”