Quality of Life and Independence in Activities of Daily Living in Epidermolysis Bullosa

Abstract Background: Epidermolysis bullosa is a rare genetic skin disorder with four main types. One of the most debilitating subtypes is recessive dystrophic epidermolysis bullosa (RDEB). Patients experience frequent blister formation that occurs spontaneously or as a result of minor pressure or friction. This often leads to scarring and fibrosis of the skin, contracture development, pseudosyndactyly of the hands, and chronic pain. Functionally patients experience decreased independence in their activities of daily living and quality of life. The relationship of engagement in activities of daily living and perceived quality of life has not been studied for this population. The aims of this cross-sectional study were to find evidence to support this relationship through the correlation of a patient-reported independence in activities of daily living questionnaire and a patient-reported quality of life measure developed for persons with EB. Results: 19 subjects with RDEB aged 9-25 were recruited from a multidisciplinary EB center from 2014-2017. The results demonstrate a slight positive trend in the correlation of independence in activities of daily living and quality of life, though the data was not sufficient to be statistically significant. Conclusion: The results of this study have implications for further research with recommendations to recruit a greater number of subjects. Use of a more sensitive and robust assessment of activities of daily living that also includes leisure skills may yield more statistically significant data. In addition, the findings confirm the important role that occupational therapy has in addressing patient needs and facilitating greater functional independence.