Health-related quality of life evaluation in epidermolysis bullosa: a scoping review

Background Epidermolysis bullosa (EB) is a group of rare, congenital, inherited skin disorders. Evaluation of health related quality-of-life (HRQoL) is key to understanding a disease’s psychosocial and emotional impact on patients and on their family caregivers (FC). Objectives The aim of this scoping review was to answer: a main question, i.e., “What measurement tools are available for evaluation of HRQoL in EB?”; and two sub-questions aimed at ascertaining, firstly, which EB-specific HRQoL instruments are available, and secondly, which of these are used for EB patients and their FC, respectively. Methods We conducted a search of the MEDLINE/PubMed, Scopus and Web of Science (WOS) databases for studies published from 23-02-2011 through early 2024. Working separately, two independent reviewers screened the references and evaluated the papers identified. Results Of a total of 300 papers, 120 were discarded for being duplicates, 180 were screened by title and abstract, and 43 underwent a full-text peer review. Inter-rater reliability between the independent reviewers was good in the review by title and abstract (κ=0.75), and moderate in the full-text review (κ=0.54). The final analysis was performed on 32 papers. Three EB-specific HRQoL questionnaires were found for patients, i.e., 18 articles (56.3%) mentioned the Quality-of-Life Evaluation in Epidermolysis Bullosa (QoLEB), two (6.25%) the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa-patients (iscorEB-p), and only one (3.1%) the Infants and Toddlers Dermatology Quality-of-Life Epidermolysis Bullosa (InToDermQoL-EB). In contrast, only one was found for FC: the Epidermolysis Bullosa Burden of Disease (EB-BoD) which was used in 9.4% of articles. Conclusions EB-specific, dermatology—specific, and generic HRQoL instruments were used in the papers reviewed. The EB-specific HRQoL questionnaires are the iscorEB-p and QoLEB for adults and children, and the InToDermQoL-EB for children under 4 years old. For FC, the only specific questionnaire is the EB-BoD, though its use is not very widespread.