Development and validation of nutritional deficiency assessment scale in patients with congenital epidermolysis bullosa

Severe forms of congenital epidermolysis bullosa (CEB) are associated with numerous complications, among which nutritional deficiency holds particular significance. Despite the existence of both national and international guidelines for diagnosing and treating nutritional deficiency in patients with CEB, a unified algorithm for detecting nutritional disorders in this disease remains unavailable.

Purpose of the study. To develop and perform an initial validation of a comprehensive quantitative scale for assessing nutritional deficiency, integrating clinical, laboratory, and instrumental parameters that most accurately reflect the nutritional status of patients with CEB.

Methods. The study included 50 patients (23 males and 27 females) with a confirmed diagnosis of congenital epidermolysis bullosa, aged 5 to 17 years and 11 months (M = 11.8 ± 3.2 years). Development of the Nutritional Deficiency Assessment Scale (NDAS) was based on the Birmingham Epidermolysis Bullosa Severity (BEBS) index, as well as laboratory and anthropometric indicators. Cronbach’s alpha coefficient was employed to evaluate internal consistency, while intraclass correlation (ICC) was used to determine reliability by comparing scale results upon patient admission and 10 days later. Criterion validity was assessed using Pearson’s correlation coefficient (r) between the NDAS and the BEBS and THINC scales.

Results. The findings indicate that the NDAS demonstrates favorable psychometric properties. Internal consistency (Cronbach’s α = 0.85) and test-retest reliability (ICC = 0.88) confirm its stability and uniformity. Criterion validity, assessed through correlation with existing scales (BEBS, THINC), revealed significant positive relationships (r > 0.70; p < 0.001).

Conclusions. The NDAS integrates both objective measures and disease-specific clinical features, reflecting a comprehensive approach to evaluating the nutritional status of patients with CEB. The present study supports the NDAS as a reliable and easy-to-use tool for diagnosing and predicting nutritional risks in patients with CEB.

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