{"orpha":79480,"name":"Pemphigus erythematosus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Seborrheic pemphigus","Senear-Usher syndrome"],"definition":"A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79480/","orphanet_url":"https://www.orpha.net/en/disease/detail/79480","names":{"fr":{"name":"Pemphigus érythémateux","synonyms":["Pemphigus séborrhéique","Syndrome de Senear-Usher"],"definition":"Pemphigus superficiel rare caractérisé, sur le plan clinique, par des plaques croûteuses, hyperkératosiques, squameuses, érythémateuses, localisées et bien délimitées, dont la disposition est souvent en ailes de papillon sur la région malaire du visage, bien qu'elles puissent aussi fréquemment siéger sur le tronc et le cuir chevelu et, plus rarement, sur les extrémités, au niveau des zones photo-exposées. Sur le plan histologique, des dépôts granulaires sont observés le long de la jonction derme-épiderme, ainsi qu'un dépôt intercellulaire au niveau des couches supérieures de l'épiderme."},"de":{"name":"Pemphigus erythematosus","synonyms":["Pemphigus seborrhoicus","Senear-Usher-Syndrom"],"definition":"Eine seltene superfizielle Pemphiguserkrankung, die klinisch durch gut abgegrenzte, lokalisierte, erythematöse, schuppige, hyperkeratotische, verkrustete Plaques gekennzeichnet ist, die sich häufig schmetterlingsförmig über die Malarregion des Gesichts verteilen (aber auch häufig den Rumpf und die Kopfhaut und seltener die Extremitäten betreffen, mit einer lichtexponierten Verteilung). Histologisch werden körnige Ablagerungen entlang der dermalen-epidermalen Grenzfläche sowie interzelluläre Ablagerungen in der oberen Epidermis beobachtet."},"es":{"name":"Pénfigo eritematoso","synonyms":["Pénfigo seborreico","Síndrome de Senear-Usher"],"definition":"Es un tipo de pénfigo superficial poco frecuente caracterizado clínicamente por placas eritematosas, costrosas, descamativas e hiperqueratósicas bien delimitadas localizadas frecuentemente en distribución en alas de mariposa en la región malar de la cara (aunque también puede afectar el tronco, cuero cabelludo, y menos frecuentemente a las extremidades en zonas fotoexpuestas). Histológicamente, se observan depósitos granulares a lo largo de la unión dermo-epidérmica, junto con depósitos intercelulares en la epidermis superior."},"it":{"name":"Pemfigo eritematoso","synonyms":["Pemfigo seborroico","Sindrome di Senear-Usher"],"definition":"Il pemfigo eritematoso è un pemfigo superficiale raro, caratterizzato clinicamente da placche localizzate, ben delimitate, eritematose, desquamative, ipercheratosiche e crostose, spesso con distribuzione a farfalla nella regione malare del viso, che possono interessare anche il tronco e lo scalpo; più raramente si localizzano sugli arti, con una distribuzione legata all'esposizione alla luce. Dal punto di vista istologico, si osservano depositi granulari lungo la giunzione dermo-epidermica e depositi intercellulari nello strato superiore dell'epidermide."},"nl":{"name":"Pemphigus erythematosus","synonyms":["Erythemateuze pemfigus","Pemphigus seborrhoicus","Seborroïsche pemfigus","Syndroom van Senear-Usher"],"definition":"Een zeldzame, oppervlakkige pemfigus, klinisch gekarakteriseerd door duidelijk begrensde, gelokaliseerde, erythemateuze, schilferende, hyperkeratotische, crusteuze plaques, vaak met vlindervormige verdeling op wang (maar ook geregeld op romp en scalp, en minder frequent op ledematen, met een verdeling naargelang blootstelling aan zonlicht). Histologisch worden granulaire afzettingen langs de dermale-epidermale overgang waargenomen, alsook intercellulaire afzetting in bovenste epidermis."},"pt":{"name":"Pênfigo eritematoso","synonyms":["Pênfigo seborréico","Sííndrome Senear-Usher"]},"pl":{"name":"Pęcherzyca rumieniowata","synonyms":["Seborrheic pemphigus","Zespół Seneara i Ushera"],"definition":"*Pęcherzyca rumieniowata jest rzadką, powierzchowną pęcherzycą, która klinicznie charakteryzuje się obecnością dobrze odgraniczonych, miejscowych, rumieniowatych, łuszczących się płytek z nadmiernym rogowaceniem i pokrytych strupami. Chorobowo zajęta skóra przybiera kształt motyla, a zmiany pokrywają policzki (ale często także tułów i skórę głowy, rzadziej kończyny, przy czym wrażliwe są obszary eksponowane na światło). W badaniu histologicznym wzdłuż granicy skórno-naskórkowej obecne są ziarniste złogi, które znajdują się także w przestrzeniach międzykomórkowych w górnej warstwie naskórka."},"cs":{"name":"Pemphigus erythematosus","synonyms":["Pemphigus seborrhoicus","Senearův-Usherův syndrom","Senear-Usherův syndrom"]},"uk":{"name":"Червоний вовчак","synonyms":["Себорейна пухирниця","Синдром Сенера-Ушера"],"definition":"A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed."},"zh":{"name":"红斑型天疱疮","synonyms":["Senear-Usher综合征"]},"tr":{"name":"Pemfigus eritematozus","synonyms":["Seboreik pemfigus","Senear-Usher sendromu"]}},"xrefs":[{"source":"ICD-10","code":"L10.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB40.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"399813106"},{"source":"MONDO","code":"0019323","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263312","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":46485,"name":"Superficial pemphigus","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-19","source":"17377385[PMID]_31396635[PMID]_26814382[PMID]","terms":[{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031540","label":"Linear IgG deposits along the epidermal basement membrane zone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030208","label":"Acetylcholine receptor antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007510","label":"Focal dermal aplasia/hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null}]}}