{"orpha":476096,"name":"Erythrokeratodermia-cardiomyopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EKC syndrome"],"definition":"Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476096/","orphanet_url":"https://www.orpha.net/en/disease/detail/476096","names":{"fr":{"name":"Syndrome d'érythrokératodermie-cardiomyopathie","synonyms":["Syndrome EKC"],"definition":"Syndrome génétique rare caractérisé par un érythème cutané généralisé se avec de fines squames blanches et un prurit réfractaire au traitement, une cardiomyopathie dilatée progressive, une kératodermie palmoplantaire, des sourcils et des cils épars ou absents, des cheveux épars, une dystrophie unguéale et des anomalies de l'émail dentaire. Un retard de croissance staturo-pondérale, un retard de développement et desopacités cornéennes existent à un degré variable. L'analyse histologique révèle une acanthose psoriasiforme, une hypogranulose et une ortho-hyperkératose compacte."},"de":{"name":"Erythrokeratodermie-Kardiomyopathie-Syndrom","synonyms":["EKC-Syndrom"]},"es":{"name":"Síndrome de eritroqueratodermia-miocardiopatía","synonyms":["Síndrome EKC"],"definition":"Es un proceso eritroqueratodérmico genético, poco frecuente, caracterizado por un eritema cutáneo generalizado, con escamas finas blanquecinas y prurito refractario a distintos tratamientos, miocardiopatía dilatada progresiva, queratodermia palmoplantar, cejas y pestañas escasas o ausentes, cabello escaso, distrofia ungueal y alteraciones del esmalte dentario. Otros hallazgos variables incluyen, retraso en la deambulación y el desarrollo y opacidades corneales. Histológicamente, se observa una acantosis psoriasiforme, hipogranulosis y ortohiperqueratosis compacta."},"it":{"name":"Eritrocheratodermia con cardiomiopatia","definition":"L'associazione tra eritrocheratodermia e cardiomiopatia è una malattia genetica rara, caratterizzata da eritema cutaneo generalizzato, che si manifesta con squame bianche sottili e prurito refrattario al trattamento, cardiomiopatia dilatativa progressiva, cheratodermia palmoplantare, sopracciglia e ciglia rade o assenti, capelli radi, distrofia ungueale e anomalie dello smalto dei denti. Altri segni clinici variabili sono il ritardo della crescita e dello sviluppo e le opacità corneali. L'esame istologico evidenzia acantosi psoriasiforme, ipogranulosi e ortoipercheratosi compatta."},"nl":{"name":"Erytrokeratodermie - cardiomyopathie-syndroom","synonyms":["EKC-syndroom"],"definition":"Erytrokeratodermie - cardiomyopathie-syndroom is een zeldzame, genetische erytrokeratodermie, gekarakteriseerd door gegeneraliseerd cutaan erytheem met fijne witte schilfers en refractaire pruritus, progressieve gedilateerde cardiomyopathie, palmoplantaire keratodermie, schaarse of afwezige wenkbrauwen en wimpers, schaars hoofdhaar, nageldystrofie, en dentale anomalieën van het glazuur. Variabele kenmerken zijn onder meer groeiachterstand, ontwikkelingsachterstand, en ontwikkeling van hoornvliestroebelingen. Histologie toont psoriasiforme acanthose, hypogranulose en compacte orthohyperkeratose."},"pt":{"name":"Síndrome de eritroqueratodermia-miocardiopatia"},"pl":{"name":"Zespół erytrokeratodermii i kardiomiopatii","synonyms":["Zespół EKC"],"definition":"*Zespół erytrokeratodermii i kardiomiopatii jest rzadką, genetycznie uwarunkowaną erytrokeratodermią, która charakteryzuje się uogólnionym rumieniem skórnym z drobnymi białymi łuskami i opornym na leczenie świądem, postępującą kardiomiopatią rozstrzeniową, rogowaceniem wewnętrznej powierzchni dłoni i podeszw stóp, rzadkimi i/lub brakiem brwi i rzęs, dystrofią paznokci i wadami szkliwa zębowego. Do cech występujących ze zmienną częstością należą: brak prawidłowego rozwoju, opóźnienie rozwoju i zmętnienia rogówki. W badaniu histologicznym stwierdza się rogowacenie łuszczycowe, hipogranulozę i zwartą ortohiperkeratozę skóry (pogrubienie i zagęszczenie warstwy rogowej skóry)."},"cs":{"name":"Syndrom zahrnující erytrokeratodermii a kardiomyopatii","synonyms":["EKC syndrome","EKC syndrom"]},"uk":{"name":"Синдром еритрокератодермії-кардіоміопатії","synonyms":["Синдром EKC"],"definition":"Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis."},"zh":{"name":"皮肤红色角化病-心肌病综合征","synonyms":["EKC综合征"],"definition":"皮肤红色角化病-心肌病综合征是一种罕见的遗传性皮肤红色角化病，其特征是全身皮肤红斑，有细小的白色鳞屑和瘙痒难治，进行性扩张性心肌病，掌跖角化病，眉毛和睫毛稀少或消失，头皮毛发稀少，甲营养不良，牙釉质异常。多变的特征包括发育停滞、发育迟缓、角膜混浊。组织学表现为银屑病样棘层肥厚、颗粒层减少和致密角化过度。"},"tr":{"name":"Eritrokeratodermi-kardiyomiyopati sendromu","synonyms":["EKC sendromu"]}},"xrefs":[{"source":"OMIM","code":"615821","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018774","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14355","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18774","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568136","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]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":77830,"name":"Rare genetic odontologic disease","classifications":[156]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26604139[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26604139[PMID]_27408699[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26604139[PMID]_27408699[PMID]"}],"phenotypes":null}