DYSTROPHIC EPIDERMOLYSIS BULLOSA: CASE SERIES OF THREE RELATED PATIENTS

Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare inherited skin disorder characterized by blistering, chronic wounds, and scarring due to mutations in the COL7A1 gene. While epidemiological data are available from certain regions, information on DEB in Central Asia and Kazakhstan is limited. Objectives: To describe the clinical manifestations, laboratory findings, and disease severity of three related patients with DEB in Kazakhstan using standardized assessment tools. Methods: This retrospective case series included a mother and her two children (daughter and son) with clinically diagnosed DEB. Clinical data were obtained from medical records and physical examinations. Laboratory parameters included complete blood count, ESR, and CRP levels. Severity of disease was assessed using the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and the Birmingham Epidermolysis Bullosa Severity Score (BESB). Results: The mother exhibited a milder phenotype with an EBDASI score of 86 and Birmingham score of 13. The daughter (EBDASI: 152; Birmingham: 30) and son (EBDASI: 154; Birmingham: 35) had severe disease with more extensive blistering, scarring, and functional impairment. Elevated inflammatory markers (CRP and ESR) and anemia were associated with more severe clinical scores. The findings revealed notable intrafamilial variability in DEB expression. Conclusions: This case series highlights the clinical heterogeneity of DEB within a single family and underscores the importance of standardized tools such as EBDASI and BESB in assessing disease severity. Systematic monitoring using validated scales can guide better management and follow-up. Further research is necessary to explore the genetic spectrum and epidemiology of DEB in Kazakhstan and Central Asia.