| Abstrakt: |
Introduction: Introduction and objectives: epidermolysis bullosa (EB) is a rare genetic disease characterised by skin fragility with blisters and erosions on the skin and/or mucous membranes. People with EB often experience several extracutaneous manifestations, including clinical and health-related quality of life (HRQoL) complications. Herein, we evaluate their HRQoL and clinical severity and propose an objective criterion for estimating nutritional compromise using the Birmingham Epidermolysis Bullosa Severity Score (BEBS) tool. Methods: this series of cases included people with EB, monitored by a multi-professional team. Clinical severity was assessed with the BEBS, using body mass index ranges by age, as an objective proposal, to estimate the degree of nutritional compromise. To assess HRQoL, the Children's Dermatology Life Quality Index (individuals aged 4-16 years) and the Quality of Life Evaluation in Epidermolysis Bullosa - Brazilian Portuguese (individuals 17 years and over) were used. Results: of the nine individuals with recessive dystrophic EB (88.9 % female and 12.91 (SD = 11.71) years), the mean total BEBS score was 24.47 (SD = 12.80) points on a scale of 0 to 100 points. Six participants had significant nutritional compromise according to the proposed criteria. Five of the six participants evaluated for HRQoL reported experiencing some impact, with individuals aged 17 and over being more affected and with greater clinical severity. Conclusions: individuals with greater clinical severity of EB experience a more significant impact on their HRQoL. The proposed quantitative criteria for assessing nutritional compromise may help standardise assessments by professionals monitoring the nutritional status of individuals with EB. Keywords: Quality of life. Epidermolysis bullosa. Body mass index. |
