{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:33:01Z","timestamp":1793748781548,"version":"4.6.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaad.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American Academy of Dermatology"],"published-print":{"date-parts":[[2014,6]]},"DOI":"10.1016\/j.jaad.2014.01.903","type":"journal-article","created":{"date-parts":[[2014,3,29]],"date-time":"2014-03-29T08:45:32Z","timestamp":1396082732000},"page":"1103-1126","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":791,"title":["Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification"],"prefix":"10.1016","volume":"70","author":[{"given":"Jo-David","family":"Fine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Bruckner-Tuderman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin A.J.","family":"Eady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene A.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann W.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Has","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Heagerty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helmut","family":"Hintner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Hovnanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel F.","family":"Jonkman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Peter","family":"Marinkovich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna E.","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jemima E.","family":"Mellerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Moss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dedee F.","family":"Murrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Woodley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Zambruno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2014.01.903_bib1","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.jaad.2008.02.004","article-title":"The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB","volume":"58","author":"Fine","year":"2008","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib2","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/jid.1962.156","article-title":"Studies on the pathogenesis of epidermolysis bullosa","volume":"39","author":"Pearson","year":"1962","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib3","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1182\/blood-2004-04-1512","article-title":"CD151, the first member of the tetraspan (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin","volume":"104","author":"Karamatic Crew","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jaad.2014.01.903_bib4","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.ajhg.2009.08.015","article-title":"A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles","volume":"85","author":"Ayub","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2014.01.903_bib5","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.ajhg.2009.09.021","article-title":"No evidence of skin blisters with human desmocollin-3 gene mutation","volume":"86","author":"Payne","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2014.01.903_bib6","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.ajhg.2011.09.001","article-title":"Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion","volume":"89","author":"Blaydon","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2014.01.903_bib7","doi-asserted-by":"crossref","first-page":"e87","DOI":"10.1111\/pde.12092","article-title":"Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A","volume":"30","author":"Krunic","year":"2013","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib8","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.ygeno.2012.01.005","article-title":"Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome","volume":"99","author":"Cabral","year":"2012","journal-title":"Genomics"},{"key":"10.1016\/j.jaad.2014.01.903_bib9","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1038\/jid.2009.215","article-title":"Keratin K6c mutations cause focal palmoplantar keratoderma","volume":"130","author":"Wilson","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib10","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1038\/jid.2010.23","article-title":"Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals","volume":"130","author":"Kiritsi","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib11","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1086\/496901","article-title":"Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa","volume":"77","author":"Jonkman","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2014.01.903_bib12","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1038\/jid.2010.189","article-title":"Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa","volume":"130","author":"Hobbs","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib13","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1111\/j.1365-2133.2010.09668.x","article-title":"Lethal acantholytic epidermolysis bullosa due to\u00a0a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart","volume":"162","author":"Bolling","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib14","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1093\/hmg\/ddr064","article-title":"Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity","volume":"20","author":"Pigors","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaad.2014.01.903_bib15","doi-asserted-by":"crossref","first-page":"2422","DOI":"10.1038\/jid.2012.166","article-title":"TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome","volume":"132","author":"Pigors","year":"2012","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib16","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.det.2009.10.014","article-title":"Ectodermal dysplasia-skin fragility syndrome","volume":"28","author":"McGrath","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.jaad.2014.01.903_bib17","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1016\/j.ajhg.2012.10.012","article-title":"Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility","volume":"91","author":"McGrath","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaad.2014.01.903_bib18","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1038\/jid.2013.373","article-title":"Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations","volume":"134","author":"Pigors","year":"2014","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib19","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1038\/jid.2010.19","article-title":"A homogeneous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex","volume":"130","author":"Groves","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib20","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.jaad.2008.09.035","article-title":"Inherited epidermolysis bullosa (EB) and the risk of life-threatening skin-derived cancers: experience of the National EB Registry, 1986-2006","volume":"60","author":"Fine","year":"2009","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib21","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.jaad.2010.07.006","article-title":"Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature","volume":"65","author":"Yuen","year":"2011","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib22","doi-asserted-by":"crossref","first-page":"695","DOI":"10.2340\/00015555-1341","article-title":"Enamel\u00a0defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa","volume":"92","author":"Yuen","year":"2012","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jaad.2014.01.903_bib23","doi-asserted-by":"crossref","first-page":"91","DOI":"10.2353\/ajpath.2009.080573","article-title":"Type XVII collagen is a key player in tooth enamel formation","volume":"174","author":"Asaka","year":"2009","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jaad.2014.01.903_bib24","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1002\/humu.21576","article-title":"Kindler syndrome: extension of FERMT1 mutational spectrum and natural history","volume":"32","author":"Has","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaad.2014.01.903_bib25","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1111\/j.1365-2133.2011.10664.x","article-title":"Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair","volume":"166","author":"Smith","year":"2012","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib26","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1038\/jid.2010.7","article-title":"Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children","volume":"130","author":"Cabral","year":"2010","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib27","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1111\/j.1365-2230.2008.02858.x","article-title":"Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14","volume":"33","author":"Yiasemides","year":"2008","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib28","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/jid.2012.248","article-title":"Epidermolysis bullosa simplex Ogna revisited","volume":"133","author":"Kiritsi","year":"2013","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib29","doi-asserted-by":"crossref","first-page":"438","DOI":"10.2340\/00015555-0484","volume":"88","author":"Dang","year":"2008","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jaad.2014.01.903_bib30","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1111\/j.1365-2133.2011.10359.x","article-title":"Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1","volume":"164","author":"Yuen","year":"2011","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaad.2014.01.903_bib31","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","article-title":"Integrin alpha3 mutations with\u00a0kidney, lung, and skin disease","volume":"366","author":"Has","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaad.2014.01.903_bib32","doi-asserted-by":"crossref","first-page":"4375","DOI":"10.1172\/JCI64100","article-title":"Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome","volume":"122","author":"Nicolaou","year":"2012","journal-title":"J Clin Invest"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962214010408?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962214010408?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T22:30:03Z","timestamp":1759271403000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0190962214010408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":32,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["S0190962214010408"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2014.01.903","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718335617.793493821","asserted-by":"object"}]},"ISSN":["0190-9622"],"issn-type":[{"value":"0190-9622","type":"print"}],"subject":[],"published":{"date-parts":[[2014,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification","name":"articletitle","label":"Article Title"},{"value":"Journal of the American Academy of Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaad.2014.01.903","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}