{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T16:40:02Z","timestamp":1766940002970},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2000,3,1]],"date-time":"2000-03-01T00:00:00Z","timestamp":951868800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: Dowling\u2013Meara (EBS-DM), Weber\u2013Cockayne (EBS-WC) and K\u00f6bner (EBS-Kb), seen in 5%, 42% and 53% of patients, respectively. As there is considerable overlap between EBS-WC and EBS-Kb, with both phenotypes frequently seen within the same pedigree, EBS-WC is best regarded as a milder variant of EBS-Kb rather than a separate disorder. Improvement with age is common in all variants of EBS, but is not invariable. Pain due to acral blistering in EBS-Kb\/EBS-WC has a more marked impact on life-style than the blisters of EBS-DM. Oral blistering, nail involvement and aplasia cutis congenita occur in all EBS subtypes and laryngeal involvement is a feature of EBS-DM. Seasonal variation is not seen in EBS-DM but is common in EBS-Kb\/EBS-WC.<\/jats:p>","DOI":"10.1046\/j.1365-2133.2000.03358.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T05:24:51Z","timestamp":1047360291000},"page":"468-472","source":"Crossref","is-referenced-by-count":58,"title":["The clinical spectrum of epidermolysis bullosa simplex"],"prefix":"10.1093","volume":"142","author":[{"given":"H.M.","family":"Horn","sequence":"first","affiliation":[{"name":"Department of Dermatology, Royal Infirmary of Edinburgh, The Lauriston Building, Lauriston Place, Edinburgh EH3 9YW, U.K."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.J.","family":"Tidman","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Royal Infirmary of Edinburgh, The Lauriston Building, Lauriston Place, Edinburgh EH3 9YW, U.K."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2000,3,1]]},"reference":[{"key":"2023012714363425400_b1","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1046\/j.1365-2133.1997.d01-1235.x","article-title":"The prevalence of epidermolysis bullosa in Scotland.","volume":"136","author":"Horn","year":"1997","journal-title":"Br J Dermatol"},{"key":"2023012714363425400_b2","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/1523-1747.ep12336051","article-title":"Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex\u2014increased severity of disease in a homozygote.","volume":"109","author":"Hu","year":"1997","journal-title":"J Invest Dermatol"},{"key":"2023012714363425400_b3","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E","article-title":"Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.","volume":"11","author":"Corden","year":"1998","journal-title":"Hum Mutat"},{"key":"2023012714363425400_b4","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1600-0625.1996.tb00133.x","article-title":"Human keratin diseases: hereditary fragility of specific epithelial tissues.","volume":"5","author":"Corden","year":"1996","journal-title":"Exp Dermatol"},{"key":"2023012714363425400_b5","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1600-0625.1997.tb00144.x","article-title":"Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies.","volume":"6","author":"Koss-Harnes","year":"1997","journal-title":"Exp Dermatol"},{"key":"2023012714363425400_b6","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1093\/hmg\/5.10.1539","article-title":"Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.","volume":"5","author":"Pulkkinen","year":"1996","journal-title":"Hum Mol Genet"},{"key":"2023012714363425400_b7","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1111\/j.1600-0625.1996.tb00124.x","article-title":"Plectin and human genetic skin disorders of skin and muscle. 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