{"Name":"Keratolytic winter erythema","DiseaseID__c":"GARD:0008275","id":8275,"encodedName":"keratolytic-winter-erythema","IsDeleted":false,"Disease_Name_Full__c":"Keratolytic winter erythema","Xref_IDs__c":"239064000; C0406756; C536155; MEDGEN:98359; MONDO:0007854; OMIM:148370; ORPHA:50943","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0007854","Disease_Description__c":"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.","GARD_Name__c":"Keratolytic winter erythema","GARD_Synonym__c":"erythrokeratolysis hiemalis; kwe; oudtshoorn disease; oudtshoorn skin disease; winter erythrokeratolysis","Curated_Disease_Description_Source__c":"MONDO:0007854","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:50943","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007854","ORPHANET_ID__c":"ORPHA:50943","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritema queratolítico invernal","Spanish_Description_Source__c":"ORPHA:50943","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"eritema queratolítico invernal","Spanish_GARD_Synonym__c":"enfermedad de oudtshoorn; eritroqueratolisis hiemalis","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0007854","GARD_Synonym__c":"erythrokeratolysis hiemalis; kwe; oudtshoorn disease; oudtshoorn skin disease; winter erythrokeratolysis","Name":"Keratolytic winter erythema","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:50943"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:50943"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:50943"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:50943"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:50943"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0406756"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008275","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239064000","Source__c":"C0406756; MONDO:0007854","Xref__c":"239064000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536155","Source__c":"MONDO:0007854","Xref__c":"C536155"},{"URL__c":"https://www.orpha.net/en/disease/detail/50943","Source__c":"C0406756; MONDO:0007854; ORPHA:50943","Xref__c":"ORPHA:50943"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406756","Source__c":"C0406756","Xref__c":"C0406756"},{"URL__c":"https://www.omim.org/entry/148370","Source__c":"C0406756; MONDO:0007854; ORPHA:50943","Xref__c":"OMIM:148370"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98359","Source__c":"C0406756","Xref__c":"MEDGEN:98359"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007854","Source__c":"GARD:0008275","Xref__c":"MONDO:0007854"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTSB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:50943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50943","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["erythrokeratolysis hiemalis"," kwe"," oudtshoorn disease"," oudtshoorn skin disease"," winter erythrokeratolysis"]}