{"orpha":48104,"name":"Pyoderma gangrenosum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inflammatory neutrophilic dermatosis characterized by painful cutaneous ulcerations with a violaceous and undermined border affecting the lower extremities; however, any hair-bearing area can be affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-48104/","orphanet_url":"https://www.orpha.net/en/disease/detail/48104","names":{"fr":{"name":"Pyoderma gangrenosum","synonyms":["Pyodermite phagédénique"],"definition":"Dermatose inflammatoire neutrophile rare caractérisée par des ulcérations cutanées douloureuses à bordure violacée et sous-minée, localisées sur les membres inférieurs, mais pouvant affecter toute zone pileuse."},"de":{"name":"Pyoderma gangraenosum","definition":"Eine seltene entzündliche neutrophile Dermatose, die durch schmerzhafte Hautgeschwüre mit einem violetten und unterminierten Rand gekennzeichnet ist, der die unteren Extremitäten betrifft; jedoch kann jeder haartragende Bereich betroffen sein."},"es":{"name":"Pioderma gangrenoso","definition":"Es una dermatosis neutrofílica inflamatoria poco frecuente caracterizada por ulceraciones cutáneas dolorosas con un borde socavado de color violáceo que afectan a las extremidades inferiores, aunque puede desarrollarse en cualquier área corporal con pelo."},"it":{"name":"Pioderma gangrenoso"},"nl":{"name":"Pyoderma gangrenosum","definition":"Een zeldzame inflammatoire neutrofiele dermatose, gekenmerkt door pijnlijke cutane ulceraties met een paarsrode en ondermijnde randen die de onderste extremiteiten aantasten; elk behaard deel kan echter aangetast worden."},"pt":{"name":"Piodermia gangrenosa","definition":"Dermatose inflamatória neutrofílica rara, caracterizada por ulcerações cutâneas dolorosas com bordas violáceas e solapadas, afetando as extremidades inferiores; no entanto, qualquer área com pêlos pode ser afetada."},"pl":{"name":"Piodermia zgorzelinowa"},"cs":{"name":"Pyoderma gangrenosum"},"uk":{"name":"Гангренозна піодермія","definition":"A rare inflammatory neutrophilic dermatosis characterized by painful cutaneous ulcerations with a violaceous and undermined border affecting the lower extremities; however, any hair-bearing area can be affected."},"zh":{"name":"坏疽性脓皮病"},"tr":{"name":"Piyoderma gangrenozum"}},"xrefs":[{"source":"ICD-10","code":"L88","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2120746218"},{"source":"MONDO","code":"0018824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017511","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085652","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7510","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037635","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]}],"children":[{"orpha":538869,"name":"Bullous pyoderma gangrenosum","type":"Clinical subtype"},{"orpha":538863,"name":"Classic pyoderma gangrenosum","type":"Clinical subtype"},{"orpha":538866,"name":"Pustular pyoderma gangrenosum","type":"Clinical subtype"},{"orpha":538872,"name":"Vegetative pyoderma gangrenosum","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":538863,"name":"Classic pyoderma gangrenosum"}},{"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"],"via":{"orpha":538866,"name":"Pustular pyoderma gangrenosum"}},{"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"],"via":{"orpha":538869,"name":"Bullous pyoderma gangrenosum"}},{"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"],"via":{"orpha":538872,"name":"Vegetative pyoderma gangrenosum"}}],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"ISBN:978-1-60831-581-9[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.91,"area":"United Kingdom","status":"Validated","source":"22534879[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25213386[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Spain","status":"Validated","source":"21782147[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"Worldwide","status":"Validated","source":"ORPHANET_21782147[PMID]_22534879[PMID]_ISBN:978-1-60831-581-9[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.517,"area":"Italy","status":"Validated","source":"29877043[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26060412[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012324","label":"Myeloid leukemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null}]}}