The impact of epidermolysis bullosa on quality of life and mental health.

Abstract

Introduction: Epidermolysis bullosa (EB) is a rare, chronic, incurable, multisystemic genetic disorder characterized by skin fragility, resulting in blistering from minimal trauma or spontaneously. Despite its physical impact, little is known about the mental health and quality of life (QoL) of those affected. This study aims to investigate these aspects in individuals with EB.

Methods: A cross-sectional study was conducted in Brazil using a self-administered questionnaire and a convenience sample. Data on clinical-epidemiological characteristics, QoL (DLQI-BRA and QoLEB), and depression indicators (PHQ-9) were collected. Descriptive statistics and the Chi-square test were used, with a significance level of p < 0.05.

Results: The sample consisted of 31 patients, predominantly women (89.3%), with a mean age of 33.32 ± 11.3 years. The recessive dystrophic subtype was most common (54.8%), and depressive symptoms were present in 71%. PHQ-9 results revealed 29% had "mild depression," 16.1% "moderate depression," 22.6% "moderately severe depression," and 3.2% "severe depression." QoLEB indicated significant impairment in functional domains, while DLQI showed that 45.2% of patients experienced severe QoL impact. The most affected domains were leisure, symptoms and feelings, and daily activities.

Conclusion: The findings highlight the substantial impact of EB on mental health, QoL, and personal relationships. These results reinforce the need for early mental health screening and the integration of multidisciplinary care to optimize patient outcomes. Implementing structured psychological support, along with comprehensive dermatological and medical management, could mitigate the burden of the disease and enhance the overall well-being of affected individuals.