{"orpha":370002,"name":"Focal palmoplantar keratoderma with joint keratoses","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370002/","orphanet_url":"https://www.orpha.net/en/disease/detail/370002","names":{"fr":{"name":"Kératodermie palmoplantaire focale avec kératose localisée aux articulations","definition":"Kératodermie palmoplantaire isolée rare, d'origine génétique, caractérisée par des lésions hyperkératosiques focales affectant les zones de pression et les zones de traumatismes mécaniques des paumes des mains et des plantes des pieds, ainsi que par des plaques hyperkératosiques au niveau des articulations (genoux, coudes, chevilles et dos des articulations interphalangiennes)."},"de":{"name":"Fokale Palmoplantarkeratose mit Hyperkeratose an den Gelenken"},"es":{"name":"Queratodermia palmoplantar focal con queratosis en las articulaciones","definition":"Es un trastorno queratodérmico palmoplantar aislado, genético y poco frecuente, caracterizado por lesiones hiperqueratósicas focales que afectan a las áreas de las palmas de las manos y las plantas de los pies sometidas a presión y a traumatismos mecánicos, así como placas hiperqueratósicas que afectan a la piel de las zonas articulares, tales como las rodillas, los codos, los tobillos y el dorso de las articulaciones interfalángicas."},"it":{"name":"Cheratoderma palmoplantare focale con cheratosi articolare","definition":"Il cheratoderma palmoplantare focale associato a cheratosi articolare è un cheratoderma palmoplantare isolato genetico raro, caratterizzato da lesioni ipercheratosiche focali, che interessano le regioni sottoposte alla pressione e ai traumi meccanici sul palmo delle mani e sulla pianta dei piedi, e da placche ipercheratosiche a livello articolare (ginocchia, gomiti, caviglie e dorso delle articolazioni interfalangee)."},"nl":{"name":"Focale palmoplantaire keratodermie met keratosen van gewrichten","definition":"Focale palmoplantaire keratodermie met keratosen aan gewrichten is een zeldzame, genetische, geïsoleerde palmoplantaire keratodermie, en wordt gekarakteriseerd door focale hyperkeratotische letsels op delen van de handpalmen en voetzolen die druk en mechanisch trauma opvangen, alsook hyperkeratotische plaques op gewrichten, waaronder knieën, ellebogen, enkels en de dorsale zijde van interfalangeale gewrichten."},"pt":{"name":"Queratodermia palmoplantar focal com queratoses articulares"},"pl":{"name":"Ogniskowy rogowiec dłoniowo-podeszwowy z keratozą stawów","definition":"*Ogniskowy rogowiec dłoniowo - podeszwowy z keratozą stawów jest rzadkim, genetycznie uwarunkowanym, izolowanym rogowaceniem dłoniowo-podeszwowego, które charakteryzuje się ogniskowymi zmianami hiperkeratotycznymi obejmującymi obszary dłoni i podeszew narażone na ucisk i urazy mechaniczne, oraz hiperkeratotycznymi blaszkami obejmującymi stawy, w tym kolanowe, łokciowe, skokowe i grzbiet stawów międzypaliczkowych."},"cs":{"name":"Fokální palmoplantární keratoderma s kloubními keratózami"},"uk":{"name":"Фокальна долонно-підошовна кератодермія з суглобовими кератозами","definition":"A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints."},"zh":{"name":"局灶性掌跖角化伴关节角化病","definition":"局灶性掌跖角化病合并关节角化病是一种罕见的遗传性孤立掌跖角化病，其特征是局灶性角化过度损害影响到手掌和脚底的压力和机械创伤承重区，以及累及关节的过度角化斑块，包括膝关节、肘关节、踝关节和指间关节的背部。"},"tr":{"name":"Eklem keratoz ile seyreden fokal palmoplantar keratoderma"}},"xrefs":[{"source":"OMIM","code":"148700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.31","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018252","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755302","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307846,"name":"Isolated focal palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"DSG1","name":"desmoglein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16484817[PMID]","hgnc":"3048","ensembl":"ENSG00000134760","omim":"125670","loci":["18q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"16484817[PMID]"}],"phenotypes":null}