{"orpha":641380,"name":"PAPASH syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"],"definition":"A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-641380/","orphanet_url":"https://www.orpha.net/en/disease/detail/641380","names":{"fr":{"name":"Syndrome PAPASH","synonyms":["Syndrome d'arthrite pyogénique-pyoderma gangrenosum-acné-hidradénite suppurée"],"definition":"Syndrome auto-inflammatoire rare caractérisé par une évolution chronique-récidivante de l'association arthrite à pyogène, pyoderma gangrenosum, acné et hidradénite suppurée (qui, outre les aisselles et les plis inguinaux, peut être observée sur le visage, la nuque, le cuir chevelu, le dos et les fesses, entre autres). Le syndrome se déclare généralement à l'adolescence ou au début de l'âge adulte, les différents signes et symptômes apparaissant simultanément ou les uns après les autres."},"de":{"name":"PAPASH-Syndrom","synonyms":["Pyogene Arthritis-Pyoderma gangrenosum-Akne-Hidradenitis suppurativa-Syndrom"],"definition":"Ein seltenes autoinflammatorisches Syndrom, das durch einen chronisch-rezidivierenden Verlauf der Kombination aus pyogener Arthritis, Pyoderma gangraenosum, Akne und Hidradenitis suppurativa (die neben den Achselhöhlen und Leistenbeugen unter anderem auch im Gesicht, am Hals, auf der Kopfhaut, am Rücken und am Gesäß auftreten kann) gekennzeichnet ist. Das typische Erkrankungsalter liegt im Jugend- bis jungen Erwachsenenalter, wobei die verschiedenen Anzeichen und Symptome gleichzeitig oder nacheinander auftreten."},"es":{"name":"Síndrome PAPASH","synonyms":["Síndrome de artritis piógena-pioderma gangrenoso-acné-hidradenitis supurativa"],"definition":"Es un síndrome autoinflamatorio poco frecuente caracterizado por un curso crónico-recidivante de una combinación de artritis piógena, pioderma gangrenoso, acné e hidradenitis supurativa (presente en la cara, cuello, cuero cabelludo, espalda y glúteos, además de axilas y pliegues inguinales, entre otros). La edad típica de aparición está comprendida entre la adolescencia y la edad adulta temprana, y los diferentes signos y síntomas aparecen de forma simultánea o sucesiva."},"it":{"name":"Sindrome PAPASH","synonyms":["Sindrome artrite piogenica-pioderma gangrenoso-acne-idrosadenite suppurativa"]},"nl":{"name":"PAPASH-syndroom","synonyms":["Pyogene artritis - pyoderma gangrenosum - acne - hidradenitis suppurativa-syndroom"],"definition":"Een zeldzaam auto-inflammatoir syndroom, gekenmerkt door een chronisch-recidiverend verloop van de combinatie van pyogene artritis, pyoderma gangrenosum, acne, en hidradenitis suppurativa (die bovenop oksels en liesstreek ook kunnen waargenomen worden op onder meer aangezicht, nek, scalp, rug en billen). De typische aanvangsleeftijd ligt in de adolescentie tot jonge volwassenheid, met verschillende verschijnselen en symptomen die gelijktijdig of opeenvolgend optreden."},"pt":{"name":"Síndrome PAPASH","synonyms":["Síndrome de artrite piogénica-pioderma gangrenoso-acne-hidradenite supurativa"],"definition":"Síndrome autoinflamatória rara caracterizada por um curso crónico-recidivante da combinação de artrite piogénica, pioderma gangrenoso, acne e hidradenite supurativa (que, além das axilas e dobras inguinais, pode ser observada na face, pescoço, couro cabeludo, costas e nádegas, entre outros). A idade típica de início é da adolescência ao início da idade adulta, com os diferentes sinais e sintomas aparecendo simultânea ou subsequentemente."},"pl":{"name":"Zespół PAPASH","synonyms":["Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"],"definition":"Rzadki zespół autozapalny charakteryzujący się przewlekłym i nawracającym ropnym zapaleniem stawów, piodermią zgorzelinową, trądzikiem i ropnym zapaleniem gruczołów potowych (zlokalizowanych nie tylko w dołach pachowych i pachwinach, ale także na twarzy, szyi, owłosionej skórze głowy, na plecach i pośladkach). Typowy wiek zachorowania to okres dojrzewania – wczesna dorosłość, przy czym różne objawy pojawiają się jednocześnie lub kolejno."},"cs":{"name":"PAPASH syndrom","synonyms":["Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"]},"uk":{"name":"Синдром PAPASH","synonyms":["Піогенний артрит - гангренозна піодермія - акне - гнійний гідраденіт"],"definition":"A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently."}},"xrefs":[{"source":"ICD-10","code":"L88","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB21","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958343","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958343","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816787","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":653434,"name":"Autoinflammatory syndrome with acne and/or hidradenitis suppurativa","classifications":[187,196]},{"orpha":652510,"name":"Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"32942279[PMID]_35034021[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32942279[PMID]_35034021[PMID]_ORPHANET"}],"phenotypes":null}