{"orpha":304,"name":"Epidermolysis bullosa simplex","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["EBS"],"definition":"A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-304/","orphanet_url":"https://www.orpha.net/en/disease/detail/304","names":{"fr":{"name":"Epidermolyse bulleuse simple","synonyms":["EBS"],"definition":"Groupe d'épidermolyses bulleuses héréditaires (EBH) caractérisées par une fragilité épidermique conduisant à la formation de bulles intraépidermiques et d'érosions spontanées ou secondaires à un traumatisme physique."},"de":{"name":"Epidermolysis bullosa simplex","synonyms":["EBS"],"definition":"Die Epidermolysis bullosa simplex (EBS) umfasst eine Krankheitsgruppe erblicher Formen von Epidermolysis bullosa (HEB) und ist gekennzeichnet durch Brüchigkeit der Haut mit Bildung intraepidermaler Blasen und Erosionen, entweder spontan oder nach einem Trauma."},"es":{"name":"Epidermólisis ampollosa simple","synonyms":["Epidermólisis bullosa simple"],"definition":"Es un grupo de trastornos de epidermólisis ampollosa hereditaria (EAH) caracterizados por la fragilidad de la piel que resulta en ampollas y erosiones intraepidérmicas que ocurren espontáneamente o después de un traumatismo."},"it":{"name":"Epidermolisi bollosa semplice","synonyms":["EBS"],"definition":"Si tratta di un gruppo di malattie ereditarie da epidermolisi bollosa (HEB), caratterizzate da fragilità cutanea che si associa alla formazione di vesciche ed erosioni intraepidermiche che insorgono spontaneamente o a seguito di traumi fisici."},"nl":{"name":"Epidermolysis bullosa simplex","synonyms":["EBS","EEB"],"definition":"Een groep van vormen van hereditaire epidermolysis bullosa (HEB), gekenmerkt door fragiliteit van huid die resulteert in intra-epidermale blaren en erosies die ofwel spontaan ofwel na fysiek trauma optreden."},"pt":{"name":"Epidermólise bolhosa simples","synonyms":["EBS"],"definition":"Grupo de doenças hereditárias da epidermólise bolhosa (EBH) caracterizado por fragilidade da pele resultando em vesículas e erosões intraepidérmicas que ocorrem espontaneamente ou após trauma físico."},"pl":{"name":"Postać zwykła pęcherzowego oddzielania się naskórka","synonyms":["EBS"]},"cs":{"name":"Epidermolysis bullosa, typ simplexní","synonyms":["EBS","EEB"]},"uk":{"name":"Простий бульозний епідермоліз","synonyms":["EBS"],"definition":"A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma."},"zh":{"name":"单纯型大疱性表皮松解症","synonyms":["EEB"]},"tr":{"name":"Epidermolizis bülloza simpleks","synonyms":["EBS","EEB"]}},"xrefs":[{"source":"ICD-10","code":"Q81.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1860717527"},{"source":"MONDO","code":"0017610","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17610","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016110","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079298","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10752","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":89839,"name":"OBSOLETE: Epidermolysis bullosa simplex superficialis","status":"inactive"},{"type":"Referred to","orpha":158661,"name":"OBSOLETE: Suprabasal epidermolysis bullosa simplex","status":"inactive"},{"type":"Referred to","orpha":158665,"name":"OBSOLETE: Basal epidermolysis bullosa simplex","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79361,"name":"Inherited epidermolysis bullosa","classifications":[156,187]}],"children":[{"orpha":595351,"name":"Epidermolysis bullosa simplex with extracutaneous involvement","type":"Category"},{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.656,"area":"Worldwide","status":"Validated","source":"20566927[PMID]_ 25201089[PMID]_ 33095945[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.58,"area":"Australia","status":"Validated","source":"20566927[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.19,"area":"Netherlands","status":"Validated","source":"33095945[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.197,"area":"Romania","status":"Validated","source":"25201089[PMID]"}],"phenotypes":null}