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  • Title: Inherited epidermolysis bullosa: epidemiology and patient care in Slovenia with a review of the updated classification.
    Author: Štublar A, Dragoš V, Dolenc-Voljč M.
    Journal: Acta Dermatovenerol Alp Pannonica Adriat; 2021 Jun; 30(2):63-66. PubMed ID: 34169701.
    Abstract:
    INTRODUCTION: Inherited epidermolysis bullosa (EB) is a heterogeneous group of rare genetic skin disorders characterized by fragility of the skin and mucous membranes. The prevalence of all types of EB is estimated at approximately 11 per million, based on recent data from the American National Epidermolysis Bullosa Registry. METHODS: A national registry of EB has not yet been established in Slovenia. Because all cases of EB are diagnosed and treated at our department, we have collected data on all known cases of EB in Slovenia. RESULTS: Based on our data, the prevalence of all EB types in Slovenia is about 20 per million. As of December 2020, our data consist of 29 EB simplex, three junctional EB, 10 dominant dystrophic EB, and four recessive dystrophic EB patients. CONCLUSIONS: The prevalence of all EB types in Slovenia is higher compared to the estimated prevalence in the United States. The multidisciplinary care of EB patients in Slovenia has been developed based on patients' needs, including a wide group of various specialists, and it has been adapted to the resources and treatment options available. This article also reviews the up-to-date classification and diagnostic protocol for EB, and international recommendations for interdisciplinary patient care.
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