{"orpha":247353,"name":"Generalized pustular psoriasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GPP"],"definition":"Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247353/","orphanet_url":"https://www.orpha.net/en/disease/detail/247353","names":{"fr":{"name":"Psoriasis pustuleux généralisé","synonyms":["GPP","PPG"],"definition":"Le psoriasis pustuleux généralisé est une maladie cutanée inflammatoire sévère pouvant mettre en jeu le pronostic vital. Il est caractérisé par des épisodes récurrents de forte fièvre, une fatigue, des éruptions cutanées érythémateuses épisodiques avec formation de pustules cutanées stériles à plusieurs endroits du corps, et d'une leucocytose à neutrophiles."},"de":{"name":"Generalisierte pustulöse Psoriasis","synonyms":["GPP"],"definition":"Die Generalisierte pustulöse Psoriasis (GPP) ist eine schwere entzündliche, potenziell lebensbedrohliche Hautkrankheit. Sie ist gekennzeichnet durch rezidivierende Episoden mit hohem Fieber, Erschöpfung, erythematösen Hautausschlägen, Bildung steriler Pusteln in verschiedenen Bereichen des Körpers und neutrophile Leukozytose."},"es":{"name":"Psoriasis pustulosa generalizada","synonyms":["GPP"],"definition":"La psoriasis pustular generalizada (GPP) es una enfermedad inflamatoria grave de la piel que puede llegar a ser mortal y que se caracteriza por episodios recurrentes de fiebre alta, fatiga, erupciones cutáneas eritematosas episódicas con formación de pústulas cutáneas estériles en varias partes del cuerpo, y leucocitosis neutrófila."},"it":{"name":"Psoriasi pustolosa generalizzata","synonyms":["GPP"],"definition":"La psoriasi pustolosa generalizzata (GPP) è una malattia cutanea infiammatoria grave, potenzialmente fatale, che si caratterizza per episodi ricorrenti di febbre alta, affaticamento, eruzioni cutanee eritematose episodiche associate alla formazione di pustole cutanee sterili in diverse parti del corpo, e leucocitosi neutrofila."},"nl":{"name":"Gegeneraliseerde pustuleuze psoriasis","synonyms":["GPP"],"definition":"Een ernstige inflammatoire, potentieel levensbedreigende aandoening van huid, gekenmerkt door recidiverende episodes van hoge koorts, vermoeidheid, episodische erythemateuze cutane erupties met vorming van steriele cutane pustels op verschillende lichaamsdelen, en neutrofiele leukocytose."},"pt":{"name":"Psoríase pustular generalizada"},"pl":{"name":"Uogólniona łuszczyca krostkowa","synonyms":["GPP"]},"cs":{"name":"Generalizovaná pustulární psoriáza","synonyms":["GPP"]},"uk":{"name":"Генералізований пустульозний псоріаз","synonyms":["GPP"],"definition":"Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis."},"zh":{"name":"全身性疱疹性银屑病","synonyms":["GPP"],"definition":"泛发性脓疱性银屑病是一种严重的炎症性皮肤病，可危及生命，其特征是反复发作高热、疲劳、偶发性红斑性皮肤疹，身体各部位出现无菌性脓疱，以及中性粒细胞增多症。"},"tr":{"name":"Jeneralize püstüler psoriazis","synonyms":["GPP"]}},"xrefs":[{"source":"OMIM","code":"614204","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616106","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L40.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EA90.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"632162554"},{"source":"MONDO","code":"0100491","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100491","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343055","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12819","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]}],"children":[],"genes":[{"symbol":"IL36RN","name":"interleukin 36 receptor antagonist","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21839423[PMID]","hgnc":"15561","ensembl":"ENSG00000136695","omim":"605507","loci":["2q14.1"]},{"symbol":"AP1S3","name":"adaptor related protein complex 1 subunit sigma 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24791904[PMID]","hgnc":"18971","ensembl":"ENSG00000152056","omim":"615781","loci":["2q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"France","status":"Validated","source":"17229609[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-04-11","source":"23967807[PMID]_33497511[PMID]_28063630[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025252","label":"Geographic tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100847","label":"Palmoplantar pustulosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Very rare (<4-1%)","criteria":null}]}}