{"orpha":221,"name":"Dermatomyositis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult dermatomyositis"],"definition":"A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221/","orphanet_url":"https://www.orpha.net/en/disease/detail/221","names":{"fr":{"name":"Dermatomyosite","synonyms":["Dermatomyosite de l'adulte"],"definition":"Myopathie inflammatoire idiopathique (MII) rare, caractérisée par des lésions cutanées évocatrices et une faiblesse musculaire proximale symétrique, ainsi que des lésions histologiques spécifiques. Les sous-types cliniques sont définis par la présence d'anticorps spécifiques de la myosite (anticorps anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5 ou anti-SAE) et sont associés à des phénotypes cliniques et à un pronostic spécifiques."},"de":{"name":"Dermatomyositis","synonyms":["DM","Dermatomyositis, adulte"],"definition":"Eine seltene idiopathische entzündliche Myopathie (IIM), die durch auffällige Hautläsionen, Muskelbefall mit symmetrischer proximaler Muskelschwäche und spezifische histologische Merkmale gekennzeichnet ist. Die klinischen Subtypen werden durch das Vorhandensein myositis-spezifischer Antikörper (Anti-Mi2-, Anti-NXP2-, Anti-TIF1-&#947;, Anti-MDA5- oder Anti-SAE-Antikörper) definiert und sind mit spezifischen klinischen Phänotypen und Prognosen verbunden."},"es":{"name":"Dermatomiositis","synonyms":["Dermatomiositis del adulto"],"definition":"Es una miopatía inflamatoria idiopática (MII) poco frecuente caracterizada por lesiones cutáneas muy sugerentes, afectación muscular con debilidad muscular proximal simétrica y características histológicas específicas. Los subtipos clínicos se definen por la presencia de anticuerpos específicos de miositis (anticuerpos anti-Mi2, anti-NXP2, anti-TIF1-gamma, anti-MDA5 o anti-SAE), asociados cada uno de ellos a un fenotipo clínico y un pronóstico específicos."},"it":{"name":"Dermatomiosite","synonyms":["DM"],"definition":"Si tratta di una miopatia infiammatoria idiopatica (IIM) rara, caratterizzata da lesioni cutanee tipiche, interessamento muscolare con debolezza simmetrica dei muscoli prossimali, e caratteristiche istologiche specifiche. I sottotipi clinici sono definiti in base alla presenza di anticorpi specifici per la miosite (anticorpi anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5 o anti-SAE) e si associano a prognosi e fenotipi clinici specifici."},"nl":{"name":"Dermatomyositis","synonyms":["Volwassen dermatomyositis"],"definition":"Een zeldzame idiopathische inflammatoire myopathie (IIM), gekenmerkt door typische huidletsels, betrokkenheid van spieren met symmetrische zwakte van proximale spieren, en specifieke histologische kenmerken. De klinische subtypes worden gedefinieerd door de aanwezigheid van myositis-specifieke antilichamen (anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5, of anti-SAE antilichamen) en zijn geassocieerd met specifieke klinische fenotypes en prognoses."},"pt":{"name":"Dermatomiosite","definition":"Uma miopatia inflamatória idiopática (MII) rara, caracterizada por lesões cutâneas sugestivas, envolvimento muscular com fraqueza muscular proximal simétrica e características histológicas específicas. Os subtipos clínicos são definidos pela presença de anticorpos específicos para a miosite (anticorpos anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5 ou anti-SAE) e estão associados a fenótipos clínicos e prognóstico específicos."},"pl":{"name":"Zapalenie skórno-mięśniowe","synonyms":["DM"]},"cs":{"name":"Dermatomyozitida","synonyms":["DM"]},"uk":{"name":"Дерматоміозит","synonyms":["Дерматоміозит у дорослих"],"definition":"A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis."},"zh":{"name":"皮肌炎","synonyms":["成人皮肌炎"]},"tr":{"name":"Dermatomiyozit","synonyms":["Erişkin dermatomiyozit"]}},"xrefs":[{"source":"ICD-10","code":"M33.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M33.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A41.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"544509908"},{"source":"MONDO","code":"0016367","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0011633","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6263","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10012503","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]},{"orpha":290836,"name":"Systemic disease with skin involvement","classifications":[187]}],"children":[{"orpha":645626,"name":"Adermatopathic dermatomyositis","type":"Clinical subtype"},{"orpha":645617,"name":"Amyopathic dermatomyositis","type":"Clinical subtype"},{"orpha":645613,"name":"Classical dermatomyositis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Australia","status":"Validated","source":"23981756[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.97,"area":"Australia","status":"Validated","source":"23981756[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.32,"area":"Argentina","status":"Validated","source":"23965482[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.2,"area":"Argentina","status":"Validated","source":"23965482[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.49,"area":"Spain","status":"Validated","source":"18053482[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"United States","status":"Validated","source":"34549549[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.0,"area":"United States","status":"Validated","source":"34549549[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.9172,"area":"Norway","status":"Validated","source":"24695011[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.32,"area":"Sweden","status":"Validated","source":"28160487[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Sweden","status":"Validated","source":"28160487[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Germany","status":"Validated","source":"36581896[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.3,"area":"Germany","status":"Validated","source":"36581896[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":0.9704,"area":"Worldwide","status":"Validated","source":"36581896[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.5312,"area":"Worldwide","status":"Validated","source":"36581896[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-05-15","source":"32644343[PMID]_31279808[PMID]_29550929[PMID]_40535138 [PMID]_37153943[PMID]_42074677[PMID]_38918941[PMID]_34447769[PMID]","terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009071","label":"Inflammatory myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034140","label":"Anti-SUMO-activating enzyme subunit 1 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034141","label":"Anti-SUMO-activating enzyme subunit 2 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002207","label":"Diffuse reticular or finely nodular infiltrations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012544","label":"Elevated circulating aldolase concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025508","label":"Gottron's papules","frequency":"Frequent (79-30%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0040324","label":"Heliotrope rash","frequency":"Frequent (79-30%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100614","label":"Myositis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033425","label":"Periungual erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025535","label":"Shawl sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033033","label":"Anti-MDA5 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033554","label":"Anti-Mi2 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034139","label":"Anti-SUMO-activating enzyme antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034152","label":"Anti-histidyl tRNA synthetase antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034142","label":"Anti-nuclear matrix protein-2 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034105","label":"Anti-transcription intermediary factor-1gamma antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025520","label":"Calcinosis cutis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430033","label":"Gottron sign","frequency":"Occasional (29-5%)","criteria":"Pathognomonic sign"},{"hpo":"HP:6000006","label":"Holster sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6001013","label":"Mechanic's hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025555","label":"Periungual teleangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011703","label":"Sinus tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025536","label":"V-sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100723","label":"Gastrointestinal stroma tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030078","label":"Lung adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100630","label":"Neoplasia of the nasopharynx","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Very rare (<4-1%)","criteria":null}]}}