{"orpha":703,"name":"Bullous pemphigoid","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-703/","orphanet_url":"https://www.orpha.net/en/disease/detail/703","names":{"fr":{"name":"Pemphigoïde bulleuse","definition":"Dermatite bulleuse auto-immune rare caractérisée par le développement de bulles sous-cutanées apparaissant sur une peau saine ou enflammée et qui s'étend typiquement sur une large zone (apparaissant au niveau des plis, dans des zones proximales des bras et des jambes, au niveau des aisselles, de l'aine et de l'abdomen) et souvent associée au prurit. L'évolution est généralement chronique, avec des exacerbations et des rémissions spontanées."},"de":{"name":"Pemphigoid, bullöses","definition":"Eine seltene blasenbildende Autoimmundermatose, die durch erworbene, subepidermale, straffe Blasen auf normaler, entzündeter Haut gekennzeichnet ist, die typischerweise weit verbreitet sind (in den Beugemuskelregionen der proximalen Arme und Beine, in den Achselhöhlen, in der Leistengegend und im Abdomen) und häufig von Juckreiz begleitet werden. Der Verlauf ist typischerweise chronisch mit spontanen Exazerbationen und Remissionen."},"es":{"name":"Penfigoide ampolloso","synonyms":["Penfigoide bulloso"],"definition":"Es una enfermedad cutánea ampollosa autoinmunitaria poco frecuente caracterizada por ampollas subepidérmicas tensas adquiridas que se originan en la piel normal o alterada. Por lo general las lesiones están distribuidas de manera extensa (regiones flexoras de la parte proximal de brazos y piernas, axilas, ingles y abdomen) y, a menudo, se asocia a prurito. La evolución es típicamente crónica, con exacerbaciones y remisiones espontáneas."},"it":{"name":"Pemfigoide bolloso","definition":"Il pemfigoide bolloso (PB) è una malattia cutanea bollosa autoimmune rara, caratterizzata da bolle subepidermiche tese acquisite, che si manifestano su porzioni di cute normale o infiammata, in genere in maniera diffusa (sulle regioni flessorie della porzione prossimale delle braccia e delle gambe, nella zona ascellare, sull'inguine e sull'addome), spesso in associazione con il prurito. Il decorso è cronico con riacutizzazioni e remissione spontanei."},"nl":{"name":"Bulleus pemfigoïd","definition":"Een zeldzame auto-immune bulleuze huidziekte, gekarakteriseerd door verworven, subepidermale gespannen bullae (blaren) op normale of ontstoken huid, doorgaans wijdverspreid (buigzones van proximale armen en benen, oksels, liesstreek en abdomen) en vaak geassocieerd met pruritus. De evolutie is doorgaans chronisch met spontane exacerbaties en remissies."},"pt":{"name":"Penfigoide bolhoso","definition":"Doença bolhosa autoimune rara da pele, caracterizada por bolhas tensas subepidérmicas adquiridas que ocorrem em pele normal ou inflamada e que são tipicamente disseminadas (ocorrendo nas regiões flexoras dos braços e pernas proximais, nas axilas, virilhas e abdómen) e frequentemente associadas a prurido. A evolução é tipicamente crónica, com exacerbações e remissões espontâneas."},"pl":{"name":"Pemfigoid pęcherzowy"},"cs":{"name":"Bulózní pemfigoid"},"uk":{"name":"Бульозний пемфігоїд","definition":"A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission."},"zh":{"name":"大疱性类天疱疮"},"tr":{"name":"Büllöz pemfigoid"}},"xrefs":[{"source":"ICD-10","code":"L12.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB41.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"233308710"},{"source":"MONDO","code":"0019082","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010391","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0030805","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5972","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10006567","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79669,"name":"Autoimmune bullous skin disease","classifications":[187]}],"children":[],"genes":[{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"8710911[PMID]_23806156[PMID]","hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]},{"symbol":"HLA-DQB1","name":"major histocompatibility complex, class II, DQ beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"8710911[PMID]_23806156[PMID]","hgnc":"4944","ensembl":"ENSG00000179344","omim":"604305","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.17,"area":"France","status":"Validated","source":"22418872[PMID]_23237497[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.34,"area":"Germany","status":"Validated","source":"19170813[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"United Kingdom","status":"Validated","source":"18614511[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.21,"area":"Switzerland","status":"Validated","source":"19566661[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.93,"area":"Germany","status":"Validated","source":"27456755[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-18","source":"31090818[PMID]_282861095[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:4000020","label":"Anti-BP180 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000019","label":"Anti-BP230 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033106","label":"Elevated circulating D-dimer concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Occasional (29-5%)","criteria":null}]}}