{"orpha":79400,"name":"Localized epidermolysis bullosa simplex","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBS-loc","Epidermolysis bullosa simplex of palms and soles","Epidermolysis bullosa simplex, Weber-Cockayne type","Localized EBS"],"definition":"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79400/","orphanet_url":"https://www.orpha.net/en/disease/detail/79400","names":{"fr":{"name":"Epidermolyse bulleuse simple localisée","synonyms":["EBS localisée","EBS-loc","Epidermolyse bulleuse simple des mains et des pieds"],"definition":"L'épidermolyse bulleuse simple localisée, anciennement connue sous le nom d'épidermolyse bulleuse simple des mains et des pieds, est un sous-type d'épidermolyse bulleuse simple caractérisé par la formation de bulles majoritairement palmoplantaires et exacerbée par la chaleur."},"de":{"name":"Epidermolysis bullosa simplex, lokalisierte","synonyms":["EBS-loc","Epidermolysis bullosa simplex Typ Weber-Cockayne","Epidermolysis bullosa simplex der Handflächen und Fußsohlen"],"definition":"Die Lokalisierte Epidermolysis bullosa simplex, früher bekannt als EBS Typ Weber-Cockayne, ist ein basaler Subtyp der Epidermolysis bullosa simplex (EBS; s. dort). Die Krankheit ist gekennzeichnet durch Blasenbildung vor allem an Handflächen und Fußsohlen mit Verschlechterung bei warmem Wetter."},"es":{"name":"Epidermólisis ampollosa simple localizada","synonyms":["EBS localizada","Epidermólisis ampollosa simple palmar y plantar","Epidermólisis ampollosa simple tipo Weber-Cockayne","Epidermólisis bullosa simple localizada"],"definition":"La epidermólisis ampollosa simple localizada, previamente conocida como EBS, de Weber-Cockayne, es un subtipo basal de epidermólisis ampollosa simple (EBS, consulte este término). La enfermedad se caracteriza por la formación de ampollas preferentemente en las palmas de las manos y plantas de los pies, que suelen empeorar con climas cálidos."},"it":{"name":"Epidermolisi bollosa semplice localizzata","synonyms":["EBS localizzata","EBS-loc","Epidermolisi bollosa semplice dei palmi e delle piante","Epidermolisi bollosa semplice, tipo Weber-Cockayne"],"definition":"L'epidermolisi bollosa semplice localizzata, nota in precedenza come EBS tipo Weber-Cockayne, è un sottotipo basale dell'epidermolisi bollosa semplice (EBS; si veda questo termine). La malattia è caratterizzata dalla formazione di bolle, soprattutto sul palmo delle mani e sulla pianta dei piedi, aggravate dal clima caldo."},"nl":{"name":"Gelokaliseerde epidermolysis bullosa simplex","synonyms":["EBS-loc","Epidermolysis bullosa simplex van handpalmen en voetzolen","Epidermolysis bullosa simplex, Weber-Cockayne-type","Gelokaliseerde EBS"],"definition":"Gelokaliseerde epidermolysis bullosa simplex, voorheen bekend als EBS type Weber-Cockayne, is een basaal subtype van epidermolysis bullosa simplex (EBS, zie deze term). De ziekte wordt gekenmerkt door blaarvorming die voornamelijk optreedt op de handpalmen en voetzolen en verergert bij warm weer."},"pt":{"name":"Epidermólise bolhosa simples localizada","synonyms":["Epidermólise bolhosa simples tipo Weber-Cockayne"],"definition":"Epidermólise bolhosa simples localizada, anteriormente conhecida como EBS, Weber-Cockayne, é um subtipo basal de epidermólise bolhosa simples (EBS, consulte este termo). A doença é caracterizada por bolhas que ocorrem principalmente nas palmas das mãos e plantas dos pés, agravadas pelo clima quente."},"pl":{"name":"Postać prosta pęcherzowego oddzielanie się naskórka zlokalizowana","synonyms":["Pęcherzowe oddzielanie się naskórka proste dłoni i stóp","Pęcherzowe oddzielanie się naskórka proste, typ Webera i Cockayne'a"]},"cs":{"name":"Lokalizovaná forma epidermolysis bullosa simplex","synonyms":["EBS-loc","Epidermolysis bullosa simplex dlaní a plosek","Epidermolysis bullosa simplex, Weberův-Cockayneho typ","Epidermolysis bullosa simplex, Weber-Cockayneho typ"]},"uk":{"name":"Простий локалізований бульозний епідермоліз","synonyms":["БЕС-loc","Простий бульозний епідермоліз долонь і підошов","Простий бульозний епідермоліз, тип Вебера-Кокейна","Локалізований БЕС"],"definition":"Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather."},"zh":{"name":"局限性单纯性大疱性表皮松解症","synonyms":["单纯型大疱性表皮松解症，Weber-Cockayne型"]},"tr":{"name":"Lokalize epidermolizis bülloza simpleks","synonyms":["EBS-loc","Avuç içi ve tabanda epidermolizis bülloza simpleks","Epidermolizis bülloza simpleks, Weber-Cockayne tipi"]}},"xrefs":[{"source":"OMIM","code":"131800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619594","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"786158619"},{"source":"MONDO","code":"7551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0080333","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2146","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT14","name":"keratin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301543[PMID]","hgnc":"6416","ensembl":"ENSG00000186847","omim":"148066","loci":["17q21.2"]},{"symbol":"KRT5","name":"keratin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301543[PMID]","hgnc":"6442","ensembl":"ENSG00000186081","omim":"148040","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-15","source":"20301543[PMID]_31039243[PMID]_28659151[PMID]_28561874[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007497","label":"Focal friction-related palmoplantar hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025238","label":"Foot pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003341","label":"Junctional split","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007446","label":"Palmoplantar blistering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007585","label":"Skin fragility with non-scarring blistering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003489","label":"Acute episodes of neuropathic symptoms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012513","label":"Upper limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031446","label":"Erosion of oral mucosa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007556","label":"Plantar hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009123","label":"Mixed hypo- and hyperpigmentation of the skin","frequency":"Excluded (0%)","criteria":null}]}}