Epidemiological Characteristics of Inherited Epidermolysis Bullosa in an Eastern European Population.

Abstract

Background/Objectives: Epidermolysis bullosa (EB) is a hereditary condition characterized by skin and mucosal fragility, with various degrees of severity. This study's objectives are to obtain updated epidemiological data that will help identify the specific types and subtypes of EB, determine the case distribution in Romania, and establish the incidence and prevalence of the condition. Methods: This population-based observational study included Romanian patients and collected data from 2012 to 2024. The following information was recorded: date of birth, status (deceased or alive), date of death (if applicable/available), sex, county, and city of residence, EB type and subtype if available, diagnosis (clinical and/or immunofluorescence mapping, transmission electron microscopy, genetic molecular analysis), affected genes, inheritance, and affected family members. Results: The study included a total of 152 patients. The point prevalence (the proportion of the population with a condition at a specific point in time) and the incidence of EB in Romania were 6.77 per million population and 24.23 per million live births, respectively. EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kindler EB (KEB), and not otherwise specified EB, as well as EB (NOS), were the main types of the condition identified in 21%, 3%, 63%, 2%, and 11% of the total cases. The point prevalence and incidence for the same time intervals were 1.58 and 5.28 in EBS, 0.10 and 1.76 in JEB, 4.72 and 12.34 in DEB, 0.16 and 0 in KEB, and 0.21 and 4.85 in EB (NOS). Conclusions: The study provides updated epidemiological data for Romania and underlines the necessity for accurate diagnosis, facilitated by access to genetic molecular testing and better reporting systems.