{"orpha":315,"name":"Erythrokeratoderma ''en cocardes''","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Degos genodermatosis \"en cocardes\""],"definition":"A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-315/","orphanet_url":"https://www.orpha.net/en/disease/detail/315","names":{"fr":{"name":"Erythrokératodermie en cocardes","synonyms":["Génodermatose \"en cocardes\" de Degos"],"definition":"Maladie génétique rare de l'épiderme caractérisée par des plaques polycycliques, annulaires et intermittentes (épisodes de rémission et de rechute) en forme de cible (ou en cocardes), accompagnées d'un érythème squameux évoluant en anneaux concentriques, affectant les extrémités, les zones de flexion et le tronc. Des plaques squameuses de type érythrokératodermie variable sont fréquemment observées de manière concomitante sur d'autres parties du corps."},"de":{"name":"Erythrokeratoderma en cocardes Degos","synonyms":["Erythrokeratodermie mit kokardenförmigen Plaques"],"definition":"Das Erythrokeratoderma 'en cocardes' ist eine seltene Genodermatose mit umschriebenen, schießscheiben- oder rosetten(kokarden)-ähnlichen, erythematösen, hyperkeratotischen Läsionen. Diese Läsionen bilden sich zurück und treten erneut auf, befallen den Rumpf und die Extremitäten und werden von schuppigen Plaques begleitet, die an ein Erythrokeratoderma variabilis (s. dort) denken lassen. Die Symptome beginnen bei Geburt oder in der frühen Kindheit. Nur wenige Fälle wurden bisher beschrieben. Die Vererbung ist autosomal-dominant."},"es":{"name":"Eritroqueratodermia en escarapela","synonyms":["Eritroqueratodermia en escarapela de Degos"],"definition":"Es un trastorno epidérmico, de origen genético y poco frecuente, caracterizado por placas intermitentes (remitentes y recurrentes), anulares, policíclicas, con forma de diana (o en escarapela), con anillos concéntricos de eritema descamativo que aparecen en las extremidades, las áreas de flexión y el tronco. Con frecuencia se encuentran asociadas placas descamativas similares a las de la eritroqueratodermia variable en otras partes del cuerpo."},"it":{"name":"Eritrocheratodermia a coccarda","synonyms":["Genodermatosi a \"coccarda\" di Degos","Genodermatosi a coccarda di Degos"],"definition":"Si tratta di una malattia genetica rara dell'epidermide, caratterizzata da placche anulari policicliche intermittenti (remittenti e recidivanti), la cui forma ricorda un bersaglio (o una coccarda), associate a un eritema desquamato ad anelli concentrici localizzato sugli arti, sulle regioni flessorie e sul tronco. Di solito, su altre parti del corpo si osservano placche desquamative simil-eritrocheratodermia variabile."},"nl":{"name":"Erytrokeratodermie 'en cocardes'","synonyms":["Genodermatose 'en cocardes' van Degos"],"definition":"Een zeldzame, genetische epidermale stoornis gekarakteriseerd door intermitterende (remitterende en recurrente), ringvormige, polycyclische, schietschijf-achtige (of 'en cocardes') plaques met concentrische ringen van schilferend erytheem op de ledematen, flexurale gebieden, en de romp. Tegelijk worden vaak erythrokeratoderma variabilis-achtige, schilferige plaques aangetroffen op andere plaatsen van het lichaam."},"pt":{"name":"Eritroqueratodermia \"en cocardes\"","synonyms":["Eritroqueratodermia \"en cocardes\" de Degos","Genodermatose \"en cocardes\" de Degos"]},"pl":{"name":"Erytrokeratodermia \"en cocardes","synonyms":["Degos genodermatosis \"en cocardes\""]},"cs":{"name":"Erythrokeratoderma \"en cocardes","synonyms":["Degos genodermatosis \"en cocardes"]},"uk":{"name":"Еритрокератодермія en cocardes","synonyms":["Ступінь генодерматозу в кокардах"],"definition":"A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body."},"zh":{"name":"恶性萎缩性丘疹病","synonyms":["坏死性遗传性皮肤病"]},"tr":{"name":"Eritrokeratoderma '' en cocardes ''","synonyms":["Degos genodermatoz \"en cocardes\""]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017836","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848050","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79355,"name":"Erythrokeratoderma","classifications":[187]},{"orpha":183438,"name":"Genetic erythrokeratoderma","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-19","source":null,"terms":[{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}