Clinical management of epidermolysis bullosa: case reports of five siblings

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dc.contributor.authorGülşen, Emine
dc.contributor.authorSariyldiz, Cansu Osmanoğullari
dc.contributor.authorGülşen, İbrahim Tevfik
dc.contributor.authorMaharani, Diah Ayu
dc.contributor.authorGoncharuk-Khomyn, Myroslav Yu
dc.contributor.authorYavuz, I.
dc.contributor.authorCallea, M.
dc.date.accessioned2026-01-24T12:20:49Z
dc.date.available2026-01-24T12:20:49Z
dc.date.issued2025
dc.departmentAlanya Alaaddin Keykubat Üniversitesi
dc.description.abstractINTRODUCTION. Epidermolysis bullosa (EB) is a rare, inherited disorder characterized by mucocutaneous fragility, leading to blistering and ulceration following minimal trauma. Among its major subtypes, EB simplex (EBS) is the most common, typically presenting with milder clinical manifestations. AIM. This case series aims to document the clinical and radiographic findings of five siblings diagnosed with EBS, emphasizing the role of dental professionals in diagnosis, management, and improving patient quality of life. MATERIALS AND METHODS. Five siblings with no prior EB diagnosis underwent clinical, radiographic, and genetic assessments. Intraoral and extraoral examinations were conducted to evaluate mucosal involvement, dental anomalies, and associated systemic manifestations. Genetic analysis confirmed EBS Type 2 (KRT5 mutation) in all cases. RESULTS. None of the cases exhibited significant oral mucosal bullae or erosions. However, hyperkeratotic lesions, nail dystrophy, and perioral bullous formations were observed in all patients. Two siblings presented with bilateral sensorineural hearing loss. Panoramic radiographs revealed missing teeth, likely due to cariesrelated extractions, highlighting challenges in oral hygiene maintenance. Dental management focused on atraumatic treatment approaches, preventive care, and dietary counseling. CONCLUSIONS. Dentists play a crucial role in the early detection and multidisciplinary management of EB. Comprehensive oral assessments can aid in subtype identification and guide tailored treatment strategies. Patient education, preventive measures, and regular follow-ups are essential to improving long-term oral health outcomes and overall quality of life for individuals with EB. © Gülşen E., Sariyldiz C.O., Gülşen İ.T., Maharani D.A., Goncharuk-Khomyn M., Yavuz İ., Callea M., Yavuz C., 2025.
dc.identifier.doi10.36377/ET-0101
dc.identifier.endpage303
dc.identifier.issn1683-2981
dc.identifier.issue2
dc.identifier.scopus2-s2.0-105010905557
dc.identifier.scopusqualityQ3
dc.identifier.startpage296
dc.identifier.urihttps://doi.org/10.36377/ET-0101
dc.identifier.urihttps://hdl.handle.net/20.500.12868/4592
dc.identifier.volume23
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherEndo Press LLC
dc.relation.ispartofEndodontics Today
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_Scopus_20260121
dc.subjectcase series
dc.subjectdental management
dc.subjectEB simplex
dc.subjectepidermolysis bullosa
dc.subjectoral health
dc.titleClinical management of epidermolysis bullosa: case reports of five siblings
dc.typeArticle

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