{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T08:53:12Z","timestamp":1788252792074,"version":"build-2803163510"},"reference-count":25,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,7,30]],"date-time":"2023-07-30T00:00:00Z","timestamp":1690675200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cDunarea de Jos\u201d University of Galati, Romania"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinics and Practice"],"abstract":"<jats:p>Introduction: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma. Depending on the ultrastructural level of skin cleavage, above or below the basement membrane, epidermolysis bullosa can be classified into four major types: simplex, junctional, dystrophic and Kindler Syndrome. In the junctional form of EB, the cleavage level is at the dermo-epidermal junction and the targeted proteins are laminin, type XVII collagen and integrins. The dystrophic form of EB is characterized by cleavage in the dermal layer, collagen VII being the targeted protein. In Kindler EB, multiple levels of cleavage have been described. The mutated gene is FERMT1. Another classification of this disease refers to phenotypic aspects such as extracutaneous lesions, severity, and distribution. The management of epidermolysis bullosa includes supportive wound treatments as well as nutritional support. Case report: We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article. Conclusions: EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.<\/jats:p>","DOI":"10.3390\/clinpract13040079","type":"journal-article","created":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T03:30:02Z","timestamp":1690774202000},"page":"873-880","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Epidermolysis Bullosa\u2014A Kindler Syndrome Case Report and Short Literature Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Bogdan Ioan","family":"Stefanescu","sequence":"first","affiliation":[{"name":"Clinical Surgical Department, Faculty of Medicine and Pharmacy, \u201cDunarea de Jos\u201d University, 800008 Galati, Romania"},{"name":"Department of Obstetrics and Gynecology, Clinical Emergency Hospital \u201cSf. Ap. Andrei\u201d, 800216 Galati, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana Sabina","family":"Radaschin","sequence":"additional","affiliation":[{"name":"Clinical Medical Department, Faculty of Medicine and Pharmacy, \u201cDun\u0103rea de Jos\u201d University, 800008 Gala\u021bi, Romania"},{"name":"Dermatology Department, \u201cSf. Parascheva Clinical Hospital of Infectious Diseases\u201d, 800179 Galati, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geta","family":"Mitrea","sequence":"additional","affiliation":[{"name":"Clinical Medical Department, Faculty of Medicine and Pharmacy, \u201cDun\u0103rea de Jos\u201d University, 800008 Gala\u021bi, Romania"},{"name":"Neonatology Department, Clinical Emergency Hospital \u201cSf. Ap. Andrei\u201d, 800216 Galati, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucretia","family":"Anghel","sequence":"additional","affiliation":[{"name":"Clinical Medical Department, Faculty of Medicine and Pharmacy, \u201cDun\u0103rea de Jos\u201d University, 800008 Gala\u021bi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Beznea","sequence":"additional","affiliation":[{"name":"Clinical Surgical Department, Faculty of Medicine and Pharmacy, \u201cDunarea de Jos\u201d University, 800008 Galati, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0322-8284","authenticated-orcid":false,"given":"Georgiana Bianca","family":"Constantin","sequence":"additional","affiliation":[{"name":"Morphological and Functional Sciences Department, Faculty of Medicine and Pharmacy, Dunarea de Jos University, 800008 Galati, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4290-7068","authenticated-orcid":false,"given":"Alin Laurentiu","family":"Tatu","sequence":"additional","affiliation":[{"name":"Clinical Medical Department, Faculty of Medicine and Pharmacy, \u201cDun\u0103rea de Jos\u201d University, 800008 Gala\u021bi, Romania"},{"name":"Dermatology Department, \u201cSf. Parascheva Clinical Hospital of Infectious Diseases\u201d, 800179 Galati, Romania"},{"name":"Research UDJ, 800008 Galati, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,30]]},"reference":[{"key":"ref_1","unstructured":"Denyer, J., and Pillay, E. (2012). Best Practice Guidelines for Skin and Wound Care in Epidermolysis Bullosa. International Consensus, Wounds International."},{"key":"ref_2","unstructured":"Wolf, K., Goldsmith, L., Katz, S., Gilchrest, B., Paller, A.S., and Leffell, D. (2008). Fitzpatrick\u2019s Dermatology in General Medicine, McGraw-Hill. [7th ed.]."},{"key":"ref_3","unstructured":"Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2022, November 17). Kindler Syndrome. 3 March 2016 [Updated 6 January 2022], GeneReviews\u00ae [Internet], Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK349072\/."},{"key":"ref_4","first-page":"775","article-title":"Kindler Syndrome: A Multidisciplinary Management Approach","volume":"111","year":"2020","journal-title":"Actas Dermo-Sifiliogr\u00e1ficas"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/j.jid.2017.12.016","article-title":"EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure","volume":"138","author":"Uitto","year":"2018","journal-title":"J. Investig. Dermatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-5-12","article-title":"Inherited epidermolysis bullosa","volume":"5","author":"Fine","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","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_8","first-page":"8","article-title":"The epidemiology of epidermolysis bullosa in the U.K.: A 9-year study","volume":"165","author":"Browne","year":"2011","journal-title":"Br. J. Dermatol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1186\/s13023-019-1158-6","article-title":"Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: Study of a series of 91 patients","volume":"14","author":"Conti","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_10","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_11","first-page":"e24758","article-title":"Urological Manifestations of Kindler Syndrome: A Case Report","volume":"14","author":"Ghorai","year":"2022","journal-title":"Cureus"},{"key":"ref_12","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_13","doi-asserted-by":"crossref","first-page":"431","DOI":"10.4103\/0378-6323.82393","article-title":"Epidermolysis bullosa: Where do we stand?","volume":"77","author":"Sarkar","year":"2011","journal-title":"Indian J. Dermatol. Venereol. Leprol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1590\/S0365-05962013000200001","article-title":"Inherited epidermolysis bullosa: Clinical and therapeutic aspects","volume":"88","author":"Boeira","year":"2013","journal-title":"An. Bras. Dermatol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.det.2009.10.006","article-title":"Herlitz junctional epidermolysis bullosa","volume":"28","author":"Laimer","year":"2010","journal-title":"Dermatol. Clin."},{"key":"ref_16","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_17","doi-asserted-by":"crossref","unstructured":"Condorelli, A.G., Dellambra, E., Logli, E., Zambruno, G., and Castiglia, D. (2019). Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20225707"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"490","DOI":"10.11152\/mu-2531","article-title":"Fetal axillary lymphangioma diagnosed on a 2D\/4D ultrasound second trimester scan-a case report and short literature review","volume":"23","author":"Stefanescu","year":"2021","journal-title":"Med. Ultrason."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"88","DOI":"10.4103\/0019-5154.41655","article-title":"Bart\u2019s syndrome","volume":"53","author":"Rajpal","year":"2008","journal-title":"Indian J. Dermatol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"e65","DOI":"10.1016\/j.jid.2016.05.093","article-title":"Research Techniques Made Simple: Immunofluorescence Antigen Mapping in Epidermolysis Bullosa","volume":"136","author":"Has","year":"2016","journal-title":"J. Investig. Dermatol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"13030\/qt4k08r7x4","DOI":"10.5070\/D3243038609","article-title":"Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: Coincidence or association?","volume":"24","author":"Roda","year":"2018","journal-title":"Dermatol. Online J."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Murrell, D.F. (2015). Blistering Diseases, Springer.","DOI":"10.1007\/978-3-662-45698-9"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"15","DOI":"10.2147\/IJWH.S345742","article-title":"Diagnostic and Management of Undescended Ovary\u2014A Preoperative Dilemma: A Case-Based Systematic Review","volume":"14","author":"Stefanopol","year":"2022","journal-title":"Int. J. Womens Health"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"217","DOI":"10.4103\/0976-237X.132342","article-title":"Kindler\u2019s syndrome: A rare case report","volume":"5","author":"Suman","year":"2014","journal-title":"Contemp. Clin. Dent."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/j.jaad.2012.01.016","article-title":"A consensus approach to wound care in epidermolysis bullosa","volume":"67","author":"Pope","year":"2012","journal-title":"J. Am. Acad. Dermatol."}],"container-title":["Clinics and Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2039-7283\/13\/4\/79\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:22:31Z","timestamp":1760127751000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2039-7283\/13\/4\/79"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,30]]},"references-count":25,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,8]]}},"alternative-id":["clinpract13040079"],"URL":"https:\/\/doi.org\/10.3390\/clinpract13040079","relation":{},"ISSN":["2039-7283"],"issn-type":[{"value":"2039-7283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,30]]}}}