{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T11:47:39Z","timestamp":1780660059256,"version":"3.54.1"},"reference-count":21,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T00:00:00Z","timestamp":1719360000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Epidermolysis bullosa (EB) is a hereditary condition characterized by skin and mucosal fragility, with various degrees of severity. This study\u2019s 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.<\/jats:p>","DOI":"10.3390\/jcm13133742","type":"journal-article","created":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T04:19:26Z","timestamp":1719461966000},"page":"3742","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Epidemiological Characteristics of Inherited Epidermolysis Bullosa in an Eastern European Population"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9747-9091","authenticated-orcid":false,"given":"Alina","family":"Suru","sequence":"first","affiliation":[{"name":"Pediatric Dermatology Discipline, Carol Davila University of Medicine and Pharmacy, 8 Eroilor Sanitari Boulevard, 050474 Bucharest, Romania"},{"name":"Pediatric Dermatology Department, Colentina Clinical Hospital, 19-21 Stefan cel Mare Street, 020125 Bucharest, Romania"},{"name":"Dermatology Research Unit, Colentina Clinical Hospital, 19-21 Stefan cel Mare Street, 020125 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0968-4026","authenticated-orcid":false,"given":"Sorina","family":"D\u0103nescu","sequence":"additional","affiliation":[{"name":"Dermatology Discipline, Iuliu Hatieganu University of Medicine and Pharmacy, 8 Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"C\u0103linescu-St\u00eencanu","sequence":"additional","affiliation":[{"name":"Dermatology Department, Saint Spiridon County Emergency Clinical Hospital, No 1 Independen\u021bei Boulevard, 700111 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis","family":"Iorga","sequence":"additional","affiliation":[{"name":"Computer Science & Engineering Department, National University of Science and Technology POLITEHNICA Bucharest, 313 Splaiul Independentei, 060042 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4815-9227","authenticated-orcid":false,"given":"Mihai","family":"Dasc\u0103lu","sequence":"additional","affiliation":[{"name":"Computer Science & Engineering Department, National University of Science and Technology POLITEHNICA Bucharest, 313 Splaiul Independentei, 060042 Bucharest, Romania"},{"name":"Academy of Romanian Scientists, 3 Ilfov Street, 050044 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4116-6459","authenticated-orcid":false,"given":"Adrian","family":"Baican","sequence":"additional","affiliation":[{"name":"Dermatology Discipline, Iuliu Hatieganu University of Medicine and Pharmacy, 8 Victor Babe\u0219 Street, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8719-6952","authenticated-orcid":false,"given":"George-Sorin","family":"\u021aiplica","sequence":"additional","affiliation":[{"name":"Dermatology Research Unit, Colentina Clinical Hospital, 19-21 Stefan cel Mare Street, 020125 Bucharest, Romania"},{"name":"Second Dermatology Discipline, Carol Davila University of Medicine and Pharmacy, 8 Eroilor Sanitari Boulevard, 050474 Bucharest, Romania"},{"name":"Second Dermatology Department, Colentina Clinical Hospital, 19-21 Stefan cel Mare Street, 020125 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen Maria","family":"S\u0103l\u0103v\u0103stru","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Discipline, Carol Davila University of Medicine and Pharmacy, 8 Eroilor Sanitari Boulevard, 050474 Bucharest, Romania"},{"name":"Pediatric Dermatology Department, Colentina Clinical Hospital, 19-21 Stefan cel Mare Street, 020125 Bucharest, Romania"},{"name":"Dermatology Research Unit, Colentina Clinical Hospital, 19-21 Stefan cel Mare Street, 020125 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.18921","article-title":"Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility","volume":"183","author":"Has","year":"2020","journal-title":"Br. J. Dermatol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/s41572-020-0210-0","article-title":"Epidermolysis bullosa","volume":"6","author":"Bardhan","year":"2020","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_3","first-page":"200","article-title":"Recommended strategies for epidermolysis bullosa management in Romania","volume":"8","author":"Salavastru","year":"2013","journal-title":"Maedica"},{"key":"ref_4","first-page":"63","article-title":"Inherited epidermolysis bullosa: Epidemiology and patient care in Slovenia with a review of the updated classification","volume":"30","author":"Stublar","year":"2021","journal-title":"Acta Dermatovenerol. Alp. Panon. Adriat."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1111\/jdv.18637","article-title":"Epidemiology of inherited epidermolysis bullosa in Germany","volume":"37","author":"Has","year":"2023","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/j.1365-2133.1992.tb00448.x","article-title":"Epidermolysis bullosa in Northern Ireland","volume":"127","author":"McKenna","year":"1992","journal-title":"Br. J. Dermatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1111\/bjd.20958","article-title":"The epidemiology of epidermolysis bullosa in England and Wales: Data from the national epidermolysis bullosa database","volume":"186","author":"Petrof","year":"2022","journal-title":"Br. J. Dermatol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1001\/jamadermatol.2016.2473","article-title":"Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry","volume":"152","author":"Fine","year":"2016","journal-title":"JAMA Dermatol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1111\/jdv.17012","article-title":"Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?","volume":"35","author":"Baardman","year":"2021","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1111\/jdv.12709","article-title":"Epidemiology of inherited epidermolysis bullosa in Romania and genotype\u2013phenotype correlations in patients with dystrophic epidermolysis bullosa","volume":"29","author":"Has","year":"2015","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1111\/j.1365-2133.1997.tb02141.x","article-title":"The prevalence of epidermolysis bullosa in Scotland","volume":"136","author":"Horn","year":"1997","journal-title":"Br. J. Dermatol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e597","DOI":"10.1111\/jdv.18826","article-title":"French data on the epidemiology and expert healthcare network for epidermolysis bullosa","volume":"37","author":"Bodemer","year":"2023","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_13","first-page":"359","article-title":"The Italian registry of hereditary epidermolysis bullosa","volume":"140","author":"Tadini","year":"2005","journal-title":"G. Ital. Dermatol. Venereol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/j.det.2010.02.022","article-title":"Epidermolysis bullosa care in Hungary","volume":"28","author":"Medvecz","year":"2010","journal-title":"Dermatol. Clin."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/j.det.2010.02.018","article-title":"Epidermolysis bullosa care in Scandinavia","volume":"28","author":"Vahlquist","year":"2010","journal-title":"Dermatol. Clin."},{"key":"ref_16","first-page":"420","article-title":"Epidemiology and providing of healthcare for patients with inherited epidermolysis bullosa in the Russian Federation","volume":"73","author":"Kubanov","year":"2018","journal-title":"Ann. Russ. Acad. Med. Sci."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1001\/archdermatol.2010.109","article-title":"Epidemiology of epidermolysis bullosa in the antipodes: The Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa","volume":"146","author":"Kho","year":"2010","journal-title":"Arch. Dermatol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/ajd.13762","article-title":"Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand","volume":"63","author":"Gear","year":"2022","journal-title":"Aust. J. Dermatol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/bjd.18128","article-title":"Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa","volume":"182","author":"Has","year":"2020","journal-title":"Br. J. Dermatol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.det.2009.12.001","article-title":"Transmission electron microscopy for the diagnosis of epidermolysis bullosa","volume":"28","author":"Eady","year":"2010","journal-title":"Dermatol. Clin."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1111\/bjd.21295","article-title":"The importance of accurate epidemiological data of epidermolysis bullosa","volume":"186","author":"Baardman","year":"2022","journal-title":"Br. J. Dermatol."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/13\/3742\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:05:50Z","timestamp":1760108750000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/13\/3742"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,26]]},"references-count":21,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2024,7]]}},"alternative-id":["jcm13133742"],"URL":"https:\/\/doi.org\/10.3390\/jcm13133742","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,26]]}}}