{"orpha":46487,"name":"Epidermolysis bullosa acquisita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired epidermolysis bullosa"],"definition":"A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46487/","orphanet_url":"https://www.orpha.net/en/disease/detail/46487","names":{"fr":{"name":"Epidermolysis bullosa acquisita","synonyms":["Epidermolyse bulleuse acquise"],"definition":"Dermatite bulleuse auto-immune sous-épithéliale, rare, chronique et incurable, caractérisée par la présence d'auto-anticorps liés au tissu anti-collagène de type VII présents dans la zone de la membrane basale de la jonction dermo-épidermique des épithéliums pavimenteux stratifiés. Le sérum du patient peut également contenir des auto-anticorps anti-collagène de type VII. Le tableau clinique est variable, la maladie affectant la peau, la muqueuse buccale et le tiers supérieur de l'oesophage. Le tableau clinique classique rappelle celui d'une épidermolyse bulleuse dystrophique héréditaire (EB) avec une fragilité de la peau, des cloques, des érosions et des cicatrices. D'autres signes cliniques, plus inhabituels, sont une éruption inflammatoire de type pemphigoïde bulleuse, une éruption de type pemphigoïde des muqueuses et une maladie de type dermatose bulleuse à IgA."},"de":{"name":"Epidermolysis bullosa, erworbene","synonyms":["Epidermolysis bullosa acquisita"],"definition":"Eine seltene, chronische, unheilbare, subepitheliale, bullöse Autoimmunerkrankung, die durch das Vorhandensein von gewebegebundenen Autoantikörpern gegen Kollagen Typ VII in der Basalmembranzone der dermal-epidermalen Grenzfläche von geschichteten Plattenepithelien gekennzeichnet ist. Auch im Serum des Patienten können Anti-Typ-VII-Kollagen-Autoantikörper vorhanden sein. Das klinische Bild ist vielfältig und kann die Haut, die Mundschleimhaut und das obere Drittel der Speiseröhre betreffen. Das klassische Erscheinungsbild erinnert an die hereditäre dystrophe Epidermolysis bullosa (EB) mit fragiler Haut, Blasen, Erosionen und Hautvernarbung. Zu den anderen, nicht klassischen klinischen Erscheinungsbildern gehören ein entzündlicher bullöser Pemphigoid-ähnlicher Hautausschlag, ein Schleimhautpemphigoid-ähnlicher Hautausschlag und eine IgA-bullöse Dermatose-ähnliche Erkrankung."},"es":{"name":"Epidermólisis ampollosa adquirida","synonyms":["Epidermólisis bullosa adquirida"],"definition":"Es una enfermedad ampollosa autoinmune subepitelial crónica, incurable y poco frecuente, caracterizada por la presencia de autoanticuerpos unidos a tejido contra el colágeno tipo VII dentro de la zona de la membrana basal de la unión dermo-epidérmica del epitelio escamoso estratificado. El suero del paciente también puede contener autoanticuerpos anti-colágeno tipo VII. La presentación clínica es variada y puede afectar a la piel, la mucosa oral y el tercio superior del esófago. La presentación clásica recuerda a la epidermólisis ampollosa distrófica hereditaria (EB) con fragilidad de la piel, ampollas y erosiones y cicatrices en la piel. Otras presentaciones clínicas no clásicas incluyen una erupción inflamatoria similar al penfigoide ampolloso, al penfigoide de membrana mucosa y la enfermedad similar a la dermatosis ampollosa por IgA."},"it":{"name":"Epidermolisi bollosa acquisita","definition":"Si tratta di una malattia sottoepiteliale bollosa autoimmune rara, cronica e incurabile, caratterizzata dalla presenza di autoanticorpi legati al tessuto diretti contro il collagene tipo VII nella membrana basale della giunzione dermo-epidermica dell'epitelio squamoso stratificato. Gli autoanticorpi diretti contro il collagene tipo VII possono essere presenti anche nel siero del paziente. Il quadro clinico è variabile, in quanto la malattia può interessare la cute, la mucosa orale e il terzo superiore dell'esofago. Il quadro clinico classico ricorda l'epidermolisi bollosa (EB) distrofica ereditaria con la presenza di fragilità della cute, vesciche, erosioni e cicatrici cutanee. Altri quadri clinici non classici comprendono l'eruzione bollosa infiammatoria simil-pemfigoide, l'eruzione simil-pemfigoide delle mucose e la malattia bollosa simil-dermatosi con IgA."},"nl":{"name":"Epidermolysis bullosa acquisita","synonyms":["Verworven epidermolysis bullosa"],"definition":"Een zeldzame, chronische, ongeneeslijke, subepitheliale, auto-immune blaarziekte gekarakteriseerd door de aanwezigheid van aan weefsel gebonden auto-antilichamen tegen type VII collageen in de zone van het basale membraan van de dermale-epidermale overgang van gelaagd plaveiselepitheel. Het serum van een patiënt kan ook anti-type VII collageen auto-antilichamen bevatten. Het klinisch beeld varieert, en kan betrokkenheid van huid, wangslijmvlies en het bovenste derde deel van de oesofagus vertonen. Het klassieke beeld doet denken aan erfelijke dystrofische epidermolysis bullosa (EB) met fragiliteit van de huid, blaarvorming, en erosies en littekenvorming van de huid. Andere niet-klassieke klinische presentaties omvatten een inflammatoire bulleus pemfigoïd-achtige eruptie, een slijmvliespemfigoïd-achtige eruptie, en een IgA bulleuze dermatose-achtige ziekte."},"pt":{"name":"Epidermólise bolhosa adquirida"},"pl":{"name":"Nabyte pęcherzowe oddzielanie się naskórka","synonyms":["Epidermolysis bullosa acquisita"]},"cs":{"name":"Získaná epidermolysis bullosa","synonyms":["Epidermolysis bullosa acquisita"]},"uk":{"name":"Бульозний епідермоліз набутий","synonyms":["Набутий бульозний епідермоліз"],"definition":"A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease."},"zh":{"name":"获得性大疱性表皮松解症","synonyms":["获得性大疱性表皮松解症"]},"tr":{"name":"Epidermolizis bülloza akizada","synonyms":["Edinsel epidermolizis bülloza"]}},"xrefs":[{"source":"ICD-10","code":"L12.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB43","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2034586329"},{"source":"MONDO","code":"0018747","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016107","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079293","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6360","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056508","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Europe","status":"Not yet validated","source":"7826096[PMID]_19170813[PMID]_7669112[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"France","status":"Not yet validated","source":"7826096[PMID]_23237497[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Germany","status":"Validated","source":"19170813[PMID]_7669112[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Singapore","status":"Validated","source":"12207586[PMID]_23237497[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Serbia","status":"Validated","source":"27767273[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.284,"area":"Germany","status":"Validated","source":"27456755[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null}]}}