{"orpha":50943,"name":"Keratolytic winter erythema","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Erythrokeratolysis hiemalis","Oudtshoorn disease"],"definition":"Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50943/","orphanet_url":"https://www.orpha.net/en/disease/detail/50943","names":{"fr":{"name":"Erythème kératolytique hivernal","synonyms":["Erythrokeratolysis hiemalis","Maladie d'Oudtshoorn"],"definition":"L'érythème kératolytique hivernal est une maladie épidermique rare caractérisée par une desquamation palmoplantaire centrifuge et un érythème récurrents, se manifestant de manière saisonnière (par temps froid). Les lésions cutanées peuvent s'étendre au dos des mains et des pieds, et aux espaces interdigitaux. La partie inférieure des jambes, les genoux et les cuisses peuvent aussi être impliquées. Les épisodes peuvent être précédés par des démangeaisons et une hyperhidrose. La biopsie cutanée révèle une spongiose épidermique avec abrasion de la couche cornée, suivie par une repousse. La maladie suit un mode de transmission autosomique dominant."},"de":{"name":"Keratolytisches Winter-Erythem","synonyms":["Erythrokeratolysis hiemalis","Oudtshoorn-Krankheit"]},"es":{"name":"Eritema queratolítico invernal","synonyms":["Enfermedad de Oudtshoorn","Eritroqueratolisis hiemalis"],"definition":"Es una enfermedad epidérmica poco frecuente caracterizada por episodios de eritema y descamación palmoplantar centrífuga recurrente de variación estacional (coincidiendo con el frío). Las lesiones cutáneas pueden extenderse al dorso de las manos y de los pies y a los espacios interdigitales. También puede afectar a la región inferior de las piernas, rodillas y muslos. Los episodios pueden ir precedidos de prurito e hiperhidrosis. La biopsia cutánea evidencia espongiosis y la presencia de hendiduras en el estrato córneo con posterior resolución. Sigue un patrón de transmisión autosómico dominante."},"it":{"name":"Eritema invernale cheratolitico","synonyms":["Eritrocheratolisi hiemalis","Malattia di Oudtshoorn"],"definition":"L'eritema invernale cheratolitico è una malattia rara dell'epidermide, caratterizzata da desquamazione ed eritema palmo-plantare centrifugo ricorrente, che varia a seconda della stagione (con il freddo). Le lesioni cutanee interessano il dorso delle mani e dei piedi e gli spazi interdigitali, ma possono estendersi anche alla parte inferiore delle gambe, alle ginocchia e alle cosce. Il prurito e l'iperidrosi possono precedere gli episodi. La biopsia cutanea evidenzia una spongiosi epidermica con fissurazioni nello strato corneo, seguite dalla ricrescita. L'eritema invernale cheratolitico ha una trasmissione autosomica dominante."},"nl":{"name":"Keratolytisch wintererytheem","synonyms":["Erythrokeratolysis hiemalis","Ziekte van Oudtshoorn"],"definition":"Keratolytisch wintererytheem is een zeldzame epidermale ziekte die gekarakteriseerd wordt door terugkerende centrifugale palmoplantaire afschilfering en erytheem met seizoensgebonden variatie (koud weer). Huidletsels kunnen zich verspreiden naar de rugzijde van de handen en voeten en naar de ruimtes tussen de vingers en tenen. Onderbenen, knieën en dijen kunnen ook betrokken zijn. Episodes kunnen voorafgegaan worden door jeuk en hyperhidrose. Huidbiopsie toont een epidermale spongiose met kloofvorming in het stratum corneum (hoornlaag), gevolgd door hergroei. Keratolytisch wintererytheem volgt een autosomaal dominant overervingspatroon."},"pt":{"name":"Eritema queratolítico do Inverno"},"pl":{"name":"Keratolityczny rumień zimowy","synonyms":["Erythrokeratolysis hiemalis","Oudtshoorn disease"]},"cs":{"name":"Keratolytický zimní erytém","synonyms":["Erytrokeratolysis hiemalis","Oudtshoornská nemoc"]},"uk":{"name":"Кератолітична зимова еритема","synonyms":["Еритрокератоліз гімалайський","Хвороба Удтшорна"],"definition":"Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission."},"zh":{"name":"角层分离性冬季红斑","synonyms":["冬令红斑角质松解"]},"tr":{"name":"Keratolitik kış eritemi","synonyms":["Oudtshoorn hastalığı","Eritrokeratoliz hiemalis"]}},"xrefs":[{"source":"OMIM","code":"148370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L30.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1491245207"},{"source":"MONDO","code":"0007854","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536155","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406756","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8275","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":"CTSB","name":"cathepsin B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28457472[PMID]","hgnc":"2527","ensembl":"ENSG00000164733","omim":"116810","loci":["8p23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Occasional (29-5%)","criteria":null}]}}