Clinical severity and functional burden of pediatric recessive dystrophic epidermolysis bullosa in China: a cross-sectional study

Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic condition that causes skin fragility and is linked to significant clinical and psychosocial challenges. The availability of data on the severity and quality of life for children with RDEB in China is limited. Objectives To evaluate the clinical severity, nutritional health, functional skills, and patient-reported challenges of pediatric RDEB in China, and to identify factors related to the severity of the disease. Methods Children with RDEB who visited the Dermatology Departments, either as outpatients or inpatients, at Shanghai Children’s Medical Center between April 30 and October 31, 2023, were included. Disease severity and patient-reported impact were evaluated using the clinician-reported iscorEB-c and caregiver-reported iscorEB-p scales. Functional independence was assessed with the Barthel Index. Demographic, clinical, and laboratory data were collected through structured questionnaires and medical record review. For this analysis, we defined “Class II medical device exposure” as the regular use (≥ 3 consecutive months) of any of the above products, documented in the wound care protocol. Patients using only Class I devices (e.g., gauze, bandages) or Class III devices (e.g., skin substitutes) were excluded from this exposure group. All Class II devices by category are listed in Table S1. Between-group comparisons were conducted using appropriate parametric or non-parametric tests. Variables significant in univariate analysis were entered into a stepwise multiple linear regression model to identify independent predictors of iscorEB-c scores. Results A total of 30 children with RDEB were included. Significant increases in iscorEB-c scores were observed across clinical severity categories, and these scores varied with nutritional status. In contrast, iscorEB-p scores showed a wide range but did not differ significantly across severity groups. Multiple linear regression revealed that ALT and serum iron independently predicted iscorEB-c scores ( p < 0.01). Conclusions Pediatric RDEB in China is characterized by substantial clinical burden, high symptom impact, and marked functional limitations. The iscorEB-c scale demonstrated strong discriminatory ability for clinical severity, while iscorEB-p captured consistently high patient-reported burden across groups. ALT and serum iron were significantly associated with disease severity, suggesting potential targets for clinical monitoring and supportive care. Since this is a cross-sectional study, external validation is still required.