{"orpha":3243,"name":"Sweet syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acute febrile neutrophilic dermatosis"],"definition":"A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3243/","orphanet_url":"https://www.orpha.net/en/disease/detail/3243","names":{"fr":{"name":"Syndrome de Sweet","synonyms":["Dermatose neutrophile aiguë fébrile"],"definition":"Maladie inflammatoire rare caractérisée par l'apparition cutanée brutale de papules, de plaques et de nodules douloureux, oedémateux et érythémateux, souvent accompagnée de fièvre et de neutrophilie avec un infiltrat dense, constitué de neutrophiles matures situés généralement dans le derme supérieur. La forme classique est associée à une maladie inflammatoire, à la grossesse, à une infection (principalement des voies respiratoires supérieures) ou à la vaccination, mais elle peut être idiopathique, associée à une hémopathie maligne ou à une tumeur des viscères, ou induite par des médicaments."},"de":{"name":"Sweet-Syndrom","synonyms":["Dermatose, akute febrile neutrophile"],"definition":"Eine seltene entzündliche Erkrankung, die durch das plötzliche Auftreten von schmerzhaften, ödematösen und erythematösen Papeln, Plaques und Knötchen auf der Haut gekennzeichnet ist und häufig von Fieber und Neutrophilie mit einer dichten Infiltration reifer Neutrophiler begleitet wird, die sich typischerweise in der oberen Dermis befinden. Die Krankheit wird klassischerweise mit entzündlichen Erkrankungen, Schwangerschaft, Infektionen (meist der oberen Atemwege) oder Impfungen in Verbindung gebracht, kann aber auch idiopathisch sein, mit einem hämatologischen oder viszeralen Malignom einhergehen oder durch Medikamente ausgelöst werden."},"es":{"name":"Síndrome de Sweet","definition":"Es una enfermedad inflamatoria poco frecuente caracterizada por la aparición repentina de pápulas, placas y nódulos dolorosos, edematosos y eritematosos en la piel, y frecuentemente acompañada de fiebre y neutrofilia, con un denso inflitrado de neutrófilos maduros que se localizan típicamente en la dermis superior. El síndrome se asocia clásicamente con enfermedad inflamatoria, embarazo, infección (principalmente de las vías respiratorias superiores) o vacunación, pero puede ser idiopático, estar asociado a una neoplasia maligna hematológica o visceral o haber sido inducido por fármacos."},"it":{"name":"Sindrome di Sweet","synonyms":["Dermatosi neutrofila acuta febbrile"],"definition":"La sindrome di Sweet (SS) è una malattia infiammatoria rara, caratterizzata dall'improvvisa insorgenza di papule, placche e noduli cutanei edematosi, eritematosi e dolorosi, spesso associati a febbre e neutrofilia, con una densa infiltrazione di neutrofili maturi, di solito localizzati nel derma superiore. In genere si associa alle malattie infiammatorie, alla gravidanza, alle infezioni (per lo più delle vie aeree superiori) o alle vaccinazioni, ma può anche essere idiopatica, associata a tumori maligni ematologici o viscerali, o indotta dai farmaci."},"nl":{"name":"Syndroom van Sweet","synonyms":["Acute febriele neutrofiele dermatose"],"definition":"Een zeldzame inflammatoire aandoening, gekarakteriseerd door abrupt verschijnen van pijnlijke, oedemateuze en erythemateuze papels, plaques en noduli op huid, vaak vergezeld van koorts en neutrofilie met dense infiltratie van rijpe neutrofielen die doorgaans zijn gesitueerd in bovenste dermis. De ziekte is typisch geassocieerd met inflammatoire ziekte, zwangerschap, infectie (meestal van bovenste luchtwegen), of vaccinatie, maar is mogelijk ook idiopathisch, geassocieerd met een hematologische of viscerale maligniteit, of geïnduceerd door medicatie."},"pt":{"name":"Síndrome Sweet","synonyms":["Dermatose neutrofílica febril aguda"]},"pl":{"name":"Zespół Sweeta","synonyms":["Ostra neutrofilowa dermatoza gorączkowa"]},"cs":{"name":"Sweetův syndrom","synonyms":["Akutní febrilní neutrofilní dermatóza"]},"uk":{"name":"Синдром Світа","synonyms":["Гострий гарячковий нейтрофільний дерматоз"],"definition":"A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced."},"zh":{"name":"Sweet综合征","synonyms":["急性发热性嗜中性皮肤病"]},"tr":{"name":"Sweet sendromu","synonyms":["Akut ateşli nötrofilik dermatoz"]}},"xrefs":[{"source":"OMIM","code":"608068","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L98.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"195212152"},{"source":"MONDO","code":"0011959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085077","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"521","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000748","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":319719,"name":"Autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]}],"children":[],"genes":[{"symbol":"MEFV","name":"MEFV innate immunity regulator, pyrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28835462[PMID]","hgnc":"6998","ensembl":"ENSG00000103313","omim":"608107","loci":["16p13.3"]},{"symbol":"PTPN6","name":"protein tyrosine phosphatase non-receptor type 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21406173[PMID]","hgnc":"9658","ensembl":"ENSG00000111679","omim":"176883","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17655751[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-10","source":"27030597[PMID]_28835462[PMID]_28981179[PMID]_30734344[PMID]","terms":[{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031236","label":"Predominantly dermal neutrophilic infiltrate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011118","label":"Abnormality of tumor necrosis factor secretion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030783","label":"Increased circulating interleukin 6 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032324","label":"Non-periodic recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011944","label":"Small vessel vasculitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025616","label":"Sterile abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020169","label":"Abnormal drug response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040154","label":"Acne inversa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040313","label":"Oligoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025452","label":"Pyoderma gangrenosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005550","label":"Chronic lymphatic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}