{"orpha":538869,"name":"Bullous pyoderma gangrenosum","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Phemphigoid pyoderma gangrenosum"],"definition":"A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538869/","orphanet_url":"https://www.orpha.net/en/disease/detail/538869","names":{"fr":{"name":"Pyoderma gangrenosum, type bulleux","synonyms":["Pyoderma gangrenosum, type atypique"],"definition":"Sous-type rare de pyoderma gangrenosum caractérisé par des amas de vésicules qui se propagent rapidement et confluent afin de former de grandes bulles, qui évoluent vers des ulcérations avec halo périphérique érythémateux et nécrose centrale, affectant principalement les membres supérieurs et le visage. Certaines maladies lymphoprolifératives étant fréquemment associées, le pronostic est souvent compromis."},"de":{"name":"Pyoderma gangraenosum, bullöses","synonyms":["Pyoderma gangraenosum, pemphigoides"],"definition":"Eine seltener Subtyp des Pyoderma gangrenosum, der gekennzeichnet ist durch subepidermale Blasenbildungen, die sich schnell ausbreiten und zu großen Bullae zusammenwachsen oder ulzerieren. Die Ulzerationen weisen einen erythematösen peripheren Halo und eine zentrale Nekrose auf und betreffen hauptsächlich die oberen Gliedmaßen und das Gesicht. Lymphoproliferative Erkrankungen sind häufig assoziiert, so dass die Prognose oft ungünstig ist."},"es":{"name":"Pioderma gangrenoso ampolloso","synonyms":["Pioderma gangrenoso penfigoide"],"definition":"Es un subtipo poco frecuente de pioderma gangrenoso caracterizado por vesículas agrupadas que se diseminan rápidamente y confluyen formando grandes ampollas que evolucionan hacia úlceras con un halo eritematoso periférico y necrosis central, que afectan principalmente a las extremidades superiores y a la cara. Con frecuencia se asocian enfermedades linfoproliferativas, lo que a menudo complica el pronóstico."},"it":{"name":"Pioderma gangrenoso bolloso","definition":"Si tratta di un sottotipo raro di pioderma gangrenoso, caratterizzato da vescicole raggruppate che si diffondono e confluiscono rapidamente, formando grandi bolle, che evolvono in ulcere, con un alone periferico eritematoso e necrosi centrale, che interessano soprattutto gli arti superiori e il viso. Spesso si associa a malattie linfoproliferative, che peggiorano la prognosi."},"nl":{"name":"Bulleuze pyoderma gangrenosum","synonyms":["Pemfigoïde pyoderma gangrenosum"],"definition":"Een zeldzaam subtype van pyoderma gangrenosum, gekarakteriseerd door gegroepeerde vesikels die snel verspreiden en samenvloeien tot grote blaren, die evolueren tot ulceraties met een erythemateuze perifere aureool en centrale necrose, voornamelijk aan de bovenste ledematen en het gelaat. Lymfoproliferatieve ziekten zijn frequent geassocieerd, dus de prognose wordt vaak negatief beïnvloed."},"pt":{"name":"Pioderma gangrenoso bulhoso"},"pl":{"name":"Piodermia pęcherzowa zgorzelinowa","synonyms":["Phemphigoid pyoderma gangrenosum"]},"cs":{"name":"Bulózní pyoderma gangrenosum","synonyms":["Pemfigoidní pyoderma gangrenosum"]},"uk":{"name":"Бульозна гангренозна піодермія","synonyms":["Фемфігоїдна гангренозна піодермія"],"definition":"A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised."},"zh":{"name":"大疱性坏疽性脓皮病","synonyms":["Phemphigoid pyoderma gangrenosum"],"definition":"坏疽性脓皮病的一个罕见亚型，其特点是群集性水疱迅速扩散并凝聚成大疱，演变成溃疡，周围有红斑性边晕和中央坏死，主要影响上肢和面部。常伴有淋巴增生性疾病，故常影响预后。"},"tr":{"name":"Büllöz piyoderma gangrenozum","synonyms":["Pemfigoid piyoderma gangrenozum"]}},"xrefs":[{"source":"ICD-10","code":"L88","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1706487193"},{"source":"MONDO","code":"0035237","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406687","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":48104,"name":"Pyoderma gangrenosum","classifications":[156,187,196]}],"children":[],"genes":[{"symbol":"PTPN6","name":"protein tyrosine phosphatase non-receptor type 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21406173[PMID]","hgnc":"9658","ensembl":"ENSG00000111679","omim":"176883","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25213386[PMID]"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Italy","status":"Validated","source":"ORPHANET_29877043[PMID]"}],"phenotypes":null}