{"orpha":555905,"name":"IgA pemphigus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-555905/","orphanet_url":"https://www.orpha.net/en/disease/detail/555905","names":{"fr":{"name":"Pemphigus à IgA","definition":"Maladie bulleuse auto-immune rare de la peau caractérisée par des éruptions vésiculo-pustuleuses douloureuses et prurigineuses causées par la circulation d'anticorps IgA dirigés contre les composants de la surface cellulaire des kératinocytes. Les lésions se situent généralement à la périphérie des plaques annulaires érythémateuses et préférentiellement sur les régions intertrigineuses. Sur le plan histologique et immunologique, le pemphigus à IgA peut être subdivisé en une dermatose pustuleuse sous-cornée et une dermatose à IgA neutrophilique intra-épidermique."},"de":{"name":"IgA-Pemphigus","definition":"Eine seltene autoimmune bullöse Hauterkrankung, die durch schmerzhafte und juckende vesikulopustuläre Eruptionen gekennzeichnet ist, die durch zirkulierende IgA-Antikörper gegen Keratinozyten-Zelloberflächenkomponenten verursacht werden. Die Läsionen treten typischerweise an der Peripherie von erythematösen ringförmigen Plaques auf und bevorzugen intertriginöse Regionen. Histologisch und immunologisch kann der IgA-Pemphigus in eine subkorneale pustulöse Dermatose und eine intraepidermale neutrophile IgA-Dermatose unterteilt werden."},"es":{"name":"Pénfigo IgA","definition":"Es una enfermedad ampollosa autoinmune cutánea poco frecuente caracterizada por lesiones vesículo pustulosas pruriginosas y dolorosas causadas por anticuerpos IgA circulantes contra los componentes de la superficie celular de los queratinocitos. Las lesiones se encontrarán típicamente en la zona periférica de placas anulares eritematosas, predominantemente en zonas de flexuras. Histológica e inmunológicamente, el pénfigo IgA puede subdividirse en dermatosis pustulosa subcorneal y en dermatosis IgA neutrofílica intraepidérmica."},"it":{"name":"Pemfigo ad IgA","definition":"Si tratta di una malattia cutanea bollosa autoimmune rara, caratterizzata da eruzioni vescicolo-pustolose dolorose e pruriginose causate dagli anticorpi IgA circolanti diretti contro le componenti della superficie cellulare dei cheratinociti. Di solito le lesioni si localizzano alla periferia delle placche anulari eritematose, con una predilezione per le zone intertriginose. Dal punto di vista istologico e immunologico, il pemfigo ad IgA viene suddiviso in dermatosi pustolosa subcorneale e dermatosi intraepidermica neutrofila ad IgA."},"nl":{"name":"IgA-pemfigus","definition":"Een zeldzame auto-immune bulleuze huidziekte, gekarakteriseerd door pijnlijke en pruritische vesiculopustulaire erupties als gevolg van circulerende IgA-antilichamen tegen componenten op het celoppervlak van keratinocyten. De laesies worden doorgaans aangetroffen in de periferie van erythemateuze ringvormige plaques en hebben een voorkeur voor intertrigineuze gebieden. Histologisch en immunologisch kan IgA-pemfigus onderverdeeld worden in subcorneale pustuleuze dermatose en intra-epidermale neutrofiele IgA-dermatose."},"pt":{"name":"Penfigo IgA"},"pl":{"name":"Pęcherzyca IgA"},"cs":{"name":"IgA pemfigus"},"uk":{"name":"IgA пемфігус","definition":"A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis."},"zh":{"name":"IgA天疱疮","definition":"一种罕见的自身免疫性大疱性皮肤病，以循环IgA抗体抗角质化细胞表面组分引起的疼痛和瘙痒性水疱皮疹为特征。皮损一般见于红斑环状斑块的外围，并偏重于间擦部。从组织学和免疫学上看，IgA天疱疮可细分为角膜下脓疱性皮炎和表皮内中性粒细胞性IgA皮肤病。"},"tr":{"name":"IgA pemfigus"}},"xrefs":[{"source":"ICD-10","code":"L10.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB40.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1890076483"},{"source":"MONDO","code":"0034127","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274167","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":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30085605[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-09","source":"31812619[PMID]_30085605[PMID]_27279313[PMID]_26566588[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031234","label":"Neutrophilic infiltration of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031539","label":"Linear IgA deposits along the epidermal basement membrane zone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025528","label":"Annular cutaneous lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032335","label":"Monoclonal elevation of circulating IgA","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100279","label":"Ulcerative colitis","frequency":"Occasional (29-5%)","criteria":null}]}}