Akademik Veri Yönetim Sistemi
Innovative Journal of Pediatrics, cilt.36, sa.1, 2026 (Scopus)
Background: Epidermolysis bullosa (EB) is a rare genetic skin disorder characterized by skin fragility and chronic wounds, often leading to significant morbidity. Malnutrition is a frequent and severe complication. However, data on the nutritional status and disease severity of EB patients in home healthcare settings are limited. Objectives: This study aimed to evaluate the relationship between disease severity and nutritional status in EB patients receiving home healthcare, and to identify clinical and biochemical predictors of malnutrition. Methods: This cross-sectional study included 16 EB patients followed by the Istanbul Prof. Dr. Cemil Taşçıoğlu City Hospital Home Healthcare Unit. Disease severity was assessed using the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI), and nutritional risk was evaluated via STRONGkids and WHO growth Z-scores. Laboratory parameters, including serum albumin, hemoglobin, and C-reactive protein (CRP), were analyzed. Comparative and regression analyses were performed for each EB subtype. Results: The mean age was 10.3 ± 4.2 years. Severe disease (EBDASI ≥ 107) was present in 56.3% of patients. Acute and chronic malnutrition rates were 53.3% and 68.8%, respectively. Epidermolysis Bullosa Disease Activity and Scarring Index was the strongest predictor of malnutrition (P < 0.001, R2 = 0.578). In multivariate analysis, STRONGkids score (P = 0.013), CRP (P = 0.009), and widespread lesions (P = 0.016) remained significant predictors. Dystrophic EB was associated with more severe disease, lower BMI SD scores (P = 0.002), and a higher prevalence of acute malnutrition (80% vs. 0%, P = 0.007). C-reactive protein positively correlated with EBDASI, while albumin and hemoglobin were negatively correlated. Low socioeconomic status was also associated with lower BMI SD (P = 0.023). No patients had received prenatal genetic counseling. Conclusions: There is a strong association between disease severity and malnutrition in EB. The EBDASI is a reliable indicator of nutritional impairment, and STRONGkids is a practical screening tool. Patients with dystrophic EB are at particularly high risk. Routine nutritional assessment, timely enteral nutrition, and expanded access to genetic counseling are critical for optimal care.