{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T15:01:06Z","timestamp":1788447666642,"version":"build-2803163510"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,12]]},"DOI":"10.7759\/cureus.66678","type":"journal-article","created":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T12:10:22Z","timestamp":1723464622000},"source":"Crossref","is-referenced-by-count":3,"title":["Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population"],"prefix":"10.7759","author":[{"given":"Nancy A","family":"Shehata","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor A","family":"Shaik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Husna","family":"Irfan Thalib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.753229","article-title":"Genetic profile of epidermolysis bullosa cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia","volume":"12","author":"Alharthi R","year":"2021","unstructured":"Alharthi R, Alnahdi MA, Alharthi A, Almutairi S, Al-Khenaizan S, AlBalwi MA. Genetic profile of epidermolysis bullosa cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia. Front Genet. 2021, 12:753229. 10.3389\/fgene.2021.753229","journal-title":"Front Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2018.11.004","article-title":"What's new in genetic skin diseases","volume":"37","author":"Hill CR","year":"2019","unstructured":"Hill CR, Theos A. What's new in genetic skin diseases. Dermatol Clin. 2019, 37:229-239. 10.1016\/j.det.2018.11.004","journal-title":"Dermatol Clin"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.2174\/1573396317666210525161252","article-title":"Epidermolysis bullosa: pediatric perspectives","volume":"18","author":"Hon KL","year":"2022","unstructured":"Hon KL, Chu S, Leung AK. Epidermolysis bullosa: pediatric perspectives. Curr Pediatr Rev. 2022, 18:182-190. 10.2174\/1573396317666210525161252","journal-title":"Curr Pediatr Rev"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.abd.2020.05.001","article-title":"Inherited epidermolysis bullosa: update on the clinical and genetic aspects","volume":"95","author":"Mariath LM","year":"2020","unstructured":"Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol. 2020, 95:551-569. 10.1016\/j.abd.2020.05.001","journal-title":"An Bras Dermatol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics12061325","article-title":"Epidermolysis bullosa-a different genetic approach in correlation with genetic heterogeneity","volume":"12","author":"P\u00e2nzaru MC","year":"2022","unstructured":"P\u00e2nzaru MC, Caba L, Florea L, Braha EE, Gorduza EV. Epidermolysis bullosa-a different genetic approach in correlation with genetic heterogeneity. Diagnostics (Basel). 2022, 12:1325. 10.3390\/diagnostics12061325","journal-title":"Diagnostics (Basel)"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2020.03.006","article-title":"Gentamicin induces laminin 332 and improves wound healing in junctional epidermolysis bullosa patients with nonsense mutations","volume":"28","author":"Kwong A","year":"2020","unstructured":"Kwong A, Cogan J, Hou Y, et al.. Gentamicin induces laminin 332 and improves wound healing in junctional epidermolysis bullosa patients with nonsense mutations. Mol Ther. 2020, 28:1327-1338. 10.1016\/j.ymthe.2020.03.006","journal-title":"Mol Ther"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.10.023","article-title":"Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages","volume":"137","author":"Vahidnezhad H","year":"2017","unstructured":"Vahidnezhad H, Youssefian L, Zeinali S, et al.. Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages. J Invest Dermatol. 2017, 137:660-669. 10.1016\/j.jid.2016.10.023","journal-title":"J Invest Dermatol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2020.9233","article-title":"A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome","volume":"20","author":"Meng L","year":"2020","unstructured":"Meng L, Yang X, Wu Y, et al.. A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome. Exp Ther Med. 2020, 20:103. 10.3892\/etm.2020.9233","journal-title":"Exp Ther Med"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3390\/biom10121607","article-title":"The human epidermal basement membrane: a shaped and cell instructive platform that aging slowly alters","volume":"10","author":"Roig-Rosello E","year":"2020","unstructured":"Roig-Rosello E, Rousselle P. The human epidermal basement membrane: a shaped and cell instructive platform that aging slowly alters. Biomolecules. 2020, 10:1607. 10.3390\/biom10121607","journal-title":"Biomolecules"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232214343","article-title":"Targeted NGS in diagnostics of genodermatosis characterized by the epidermolysis bullosa symptom complex in 268 Russian children","volume":"23","author":"Savostyanov K","year":"2022","unstructured":"Savostyanov K, Murashkin N, Pushkov A, et al.. Targeted NGS in diagnostics of genodermatosis characterized by the epidermolysis bullosa symptom complex in 268 Russian children. Int J Mol Sci. 2022, 23:10.3390\/ijms232214343","journal-title":"Int J Mol Sci"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18128","article-title":"Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa","volume":"182","author":"Has C","year":"2020","unstructured":"Has C, Liu L, Bolling MC, et al.. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020, 182:574-592. 10.1111\/bjd.18128","journal-title":"Br J Dermatol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ad.2017.08.008","article-title":"Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group","volume":"109","author":"S\u00e1nchez-Jimeno C","year":"2018","unstructured":"S\u00e1nchez-Jimeno C, Esc\u00e1mez MJ, Ayuso C, Trujillo-Tiebas MJ, Del R\u00edo M. Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group. Actas Dermosifiliogr (Engl Ed). 2018, 109:104-122. 10.1016\/j.ad.2017.08.008","journal-title":"Actas Dermosifiliogr (Engl Ed)"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1993.tb05029.x","article-title":"Epidermolysis bullosa in the eastern province of Saudi Arabia","volume":"32","author":"Abahussein AA","year":"1993","unstructured":"Abahussein AA, al-Zayir AA, Mostafa WZ, Okoro AN. Epidermolysis bullosa in the eastern province of Saudi Arabia. Int J Dermatol. 1993, 32:579-581. 10.1111\/j.1365-4362.1993.tb05029.x","journal-title":"Int J Dermatol"},{"key":"ref14","article-title":"Epidermolysis bullosa: experience from the western province of Saudi Arabia","volume":"13","author":"Jalalah SM","year":"2006","unstructured":"Jalalah SM, Sawan AS, Zimmo SK. Epidermolysis bullosa: experience from the western province of Saudi Arabia. Med Sci. 2006, 13:","journal-title":"Med Sci"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.15761\/BGG.1000143","article-title":"Underlying molecular genetic defects of the Dystrophic Epidermolysis Bullosa Diseases in Hail, Saudi Arabia and literature review","volume":"4","author":"A Alshammari B","year":"2019","unstructured":"A Alshammari B, M Almutawa A, F Alshammrie F, S Alsuhaibani E, Hawwari A. Underlying molecular genetic defects of the Dystrophic Epidermolysis Bullosa Diseases in Hail, Saudi Arabia and literature review. Biomed Genet Genomics. 2019, 4:1-9. 10.15761\/BGG.1000143","journal-title":"Biomed Genet Genomics"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.43206","article-title":"Epidermolysis bullosa simplex with dystonin gene mutation: first reported case in Saudi Arabia","volume":"15","author":"Al Towijry M","year":"2023","unstructured":"Al Towijry M, Alanazi AM, Eldesoky F, Alharthi YH, Albalawi IA. Epidermolysis bullosa simplex with dystonin gene mutation: first reported case in Saudi Arabia. Cureus. 2023, 15:e43206. 10.7759\/cureus.43206","journal-title":"Cureus"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13792","article-title":"Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: a comprehensive review","volume":"99","author":"Mariath LM","year":"2021","unstructured":"Mariath LM, Santin JT, Frantz JA, Doriqui MJ, Schuler-Faccini L, Kiszewski AE. Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: a comprehensive review. Clin Genet. 2021, 99:29-41. 10.1111\/cge.13792","journal-title":"Clin Genet"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25042243","article-title":"Emerging gene therapeutics for epidermolysis bullosa under development","volume":"25","author":"Bischof J","year":"2024","unstructured":"Bischof J, Hierl M, Koller U. Emerging gene therapeutics for epidermolysis bullosa under development. Int J Mol Sci. 2024, 25:2243. 10.3390\/ijms25042243","journal-title":"Int J Mol Sci"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-023-01935-z","article-title":"Birch bark extract: a review in epidermolysis bullosa","volume":"83","author":"Heo YA","year":"2023","unstructured":"Heo YA. Birch bark extract: a review in epidermolysis bullosa. Drugs. 2023, 83:1309-1314. 10.1007\/s40265-023-01935-z","journal-title":"Drugs"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1080\/14728214.2020.1839049","article-title":"Emerging drugs for the treatment of epidermolysis bullosa","volume":"25","author":"Titeux M","year":"2020","unstructured":"Titeux M, Bonnet des Claustres M, Izmiryan A, Ragot H, Hovnanian A. Emerging drugs for the treatment of epidermolysis bullosa. Expert Opin Emerg Drugs. 2020, 25:467-489. 10.1080\/14728214.2020.1839049","journal-title":"Expert Opin Emerg Drugs"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.4103\/idoj.IDOJ_287_18","article-title":"Newer treatment modalities in epidermolysis bullosa","volume":"10","author":"Bruckner-Tuderman L","year":"2019","unstructured":"Bruckner-Tuderman L. Newer treatment modalities in epidermolysis bullosa. Indian Dermatol Online J. 2019, 10:244-250. 10.4103\/idoj.IDOJ_287_18","journal-title":"Indian Dermatol Online J"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22073326","article-title":"Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa","volume":"22","author":"Ablinger M","year":"2021","unstructured":"Ablinger M, Lettner T, Friedl N, et al.. Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa. Int J Mol Sci. 2021, 22:3326. 10.3390\/ijms22073326","journal-title":"Int J Mol Sci"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx669","article-title":"An RNA-targeted therapy for dystrophic epidermolysis bullosa","volume":"45","author":"Peking P","year":"2017","unstructured":"Peking P, Koller U, Duarte B, et al.. An RNA-targeted therapy for dystrophic epidermolysis bullosa. Nucleic Acids Res. 2017, 45:10259-10269. 10.1093\/nar\/gkx669","journal-title":"Nucleic Acids Res"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1097\/MS9.0000000000001422","article-title":"Revolutionary breakthrough: FDA approves Vyjuvek, the first topical gene therapy for dystrophic epidermolysis bullosa","volume":"85","author":"Khan A","year":"2023","unstructured":"Khan A, Riaz R, Ashraf S, Akilimali A. Revolutionary breakthrough: FDA approves Vyjuvek, the first topical gene therapy for dystrophic epidermolysis bullosa. Ann Med Surg (Lond). 2023, 85:6298-6301. 10.1097\/MS9.0000000000001422","journal-title":"Ann Med Surg (Lond)"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1111\/exd.13979","article-title":"Epidermolysis bullosa: advances in research and treatment","volume":"28","author":"Prodinger C","year":"2019","unstructured":"Prodinger C, Reichelt J, Bauer JW, Laimer M. Epidermolysis bullosa: advances in research and treatment. Exp Dermatol. 2019, 28:1176-1189. 10.1111\/exd.13979","journal-title":"Exp Dermatol"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1093\/bjd\/ljae006","article-title":"Neonatal epidermolysis bullosa: a clinical practice guideline","volume":"190","author":"Saad R","year":"2024","unstructured":"Saad R, Duipmans J, Yerlett N, et al.. Neonatal epidermolysis bullosa: a clinical practice guideline. Br J Dermatol. 2024, 190:636-656. 10.1093\/bjd\/ljae006","journal-title":"Br J Dermatol"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-022-01252-3","article-title":"Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center","volume":"48","author":"Retrosi C","year":"2022","unstructured":"Retrosi C, Diociaiuti A, De Ranieri C, et al.. Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center. Ital J Pediatr. 2022, 48:58. 10.1186\/s13052-022-01252-3","journal-title":"Ital J Pediatr"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2023.06.002","article-title":"Gene therapy advances shine the spotlight on epidermolysis bullosa, bringing hope to patients","volume":"31","author":"Koller U","year":"2023","unstructured":"Koller U. Gene therapy advances shine the spotlight on epidermolysis bullosa, bringing hope to patients. Mol Ther. 2023, 31:1860-1861. 10.1016\/j.ymthe.2023.06.002","journal-title":"Mol Ther"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.705019","article-title":"Hologene 5: a phase II\/III clinical trial of combined cell and gene therapy of junctional epidermolysis bullosa","volume":"12","author":"De Rosa L","year":"2021","unstructured":"De Rosa L, Enzo E, Zardi G, Bodemer C, Magnoni C, Schneider H, De Luca M. Hologene 5: a phase II\/III clinical trial of combined cell and gene therapy of junctional epidermolysis bullosa. Front Genet. 2021, 12:705019. 10.3389\/fgene.2021.705019","journal-title":"Front Genet"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S386923","article-title":"Innovations in the treatment of dystrophic epidermolysis bullosa (DEB): current landscape and prospects","volume":"19","author":"Hou PC","year":"2023","unstructured":"Hou PC, Del Agua N, Lwin SM, Hsu CK, McGrath JA. Innovations in the treatment of dystrophic epidermolysis bullosa (DEB): current landscape and prospects. Ther Clin Risk Manag. 2023, 19:455-473. 10.2147\/TCRM.S386923","journal-title":"Ther Clin Risk Manag"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.3390\/bioengineering10040422","article-title":"Stem cell therapies for epidermolysis bullosa treatment","volume":"10","author":"Niti A","year":"2023","unstructured":"Niti A, Koliakos G, Michopoulou A. Stem cell therapies for epidermolysis bullosa treatment. Bioengineering (Basel). 2023, 10:422. 10.3390\/bioengineering10040422","journal-title":"Bioengineering (Basel)"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01811-7","article-title":"A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa","volume":"16","author":"Tang JY","year":"2021","unstructured":"Tang JY, Marinkovich MP, Lucas E, et al.. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2021, 16:175. 10.1186\/s13023-021-01811-7","journal-title":"Orphanet J Rare Dis"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.03.028","article-title":"Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: a global cross-sectional survey","volume":"85","author":"Eng VA","year":"2021","unstructured":"Eng VA, Solis DC, Gorell ES, et al.. Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: a global cross-sectional survey. J Am Acad Dermatol. 2021, 85:1161-1167. 10.1016\/j.jaad.2020.03.028","journal-title":"J Am Acad Dermatol"},{"key":"ref34","article-title":"Inherited epidermolysis bullosa: epidemiology and patient care in Slovenia with a review of the updated classification","volume":"30","author":"\u0160tublar A","year":"2021","unstructured":"\u0160tublar A, Drago\u0161 V, Dolenc-Volj\u010d M. Inherited epidermolysis bullosa: epidemiology and patient care in Slovenia with a review of the updated classification. Acta Dermatovenerol Alp Pannonica Adriat. 2021, 30:63-66.","journal-title":"Acta Dermatovenerol Alp Pannonica Adriat"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0210-0","article-title":"Epidermolysis bullosa","volume":"6","author":"Bardhan A","year":"2020","unstructured":"Bardhan A, Bruckner-Tuderman L, Chapple IL, et al.. Epidermolysis bullosa. Nat Rev Dis Primers. 2020, 6:78. 10.1038\/s41572-020-0210-0","journal-title":"Nat Rev Dis Primers"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13762","article-title":"Epidermolysis bullosa with congenital absence of skin: clinical and genetic characterization of a 23-case series","volume":"98","author":"Mariath LM","year":"2020","unstructured":"Mariath LM, Santin JT, Frantz JA, Doriqui MJ, Schuler-Faccini L, Kiszewski AE. Epidermolysis bullosa with congenital absence of skin: clinical and genetic characterization of a 23-case series. Clin Genet. 2020, 98:99-101. 10.1111\/cge.13762","journal-title":"Clin Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/279089-genetic-implications-and-management-of-epidermolysis-bullosa-in-the-saudi-arabian-population","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T12:10:25Z","timestamp":1723464625000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/279089-genetic-implications-and-management-of-epidermolysis-bullosa-in-the-saudi-arabian-population"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,12]]},"references-count":36,"URL":"https:\/\/doi.org\/10.7759\/cureus.66678","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8,12]]}}}