{"orpha":402003,"name":"Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402003/","orphanet_url":"https://www.orpha.net/en/disease/detail/402003","names":{"fr":{"name":"Kératodermie palmoplantaire focale non épidermolytique autosomique dominante avec atteintes bulleuses","definition":"Kératodermie palmoplantaire focale isolée rare d'origine génétique, caractérisée par un épaississement focal de la peau de la plante des pieds et souvent de la paume des mains, associé à une atteinte légère ou nulle des ongles. Les patients présentent souvent des cloques plantaires douloureuses non épidermolytiques et, parfois, une leucokératose buccale subtile ou une hyperhidrose plantaire."},"de":{"name":"Autosomal-dominante fokale nicht-epidermolytische Palmoplantarkeratose mit Blasenbildungen an den Füßen"},"es":{"name":"Queratodermia palmoplantar focal no epidermolítica autosómica dominante con ampollas plantares","definition":"Es una queratodermia palmoplantar focal de base genética poco frecuente caracterizada por un engrosamiento focal de la piel de las plantas de los pies y, a menudo, de las palmas de las manos, asociada a una mínima o ausente afectación ungueal. Con frecuencia, los pacientes presentan ampollas plantares no epidermolíticas dolorosas y, ocasionalmente, una leucoplasia oral leve o una hiperhidrosis plantar."},"it":{"name":"Cheratoderma palmoplantare focale non epidermolitico, autosomico dominante, con vesciche plantari","definition":"È un cheratoderma focale isolato raro, di origine genetica, caratterizzato da ispessimento focale della cute della pianta dei piedi e, spesso, del palmo delle mani, con possibile interessamento minimo delle unghie. Spesso i pazienti presentano vesciche plantari non epidermolitiche dolorose e, raramente, lieve leucocheratosi orale o iperidrosi plantare."},"nl":{"name":"Autosomaal dominante focale niet-epidermolytische palmoplantaire keratodermie met plantaire blaarvorming","definition":"Een zeldzame, genetische, geïsoleerde, focale palmoplantaire keratodermie die gekarakteriseerd wordt door focale verdikking van de huid van de voetzolen, en vaak van de handpalmen, geassocieerd met minimale of geen betrokkenheid van de nagels. Patiënten vertonen geregeld niet-epidermolytische, pijnlijke, plantaire blaarvorming en, occasioneel, subtiele orale leukokeratose of plantaire hyperhidrose."},"pt":{"name":"Queratodermia palmoplantar não-epidermolítica focal autossómica dominante com formação de bolhas"},"pl":{"name":"Autosomalna dominująca ogniskowa nie epidermolityczna keratoderma dłoni i stóp z pęcherzami stóp"},"cs":{"name":"Autozomálně dominantně dědičná fokální non-epidermolytická palmoplantární keratoderma s plantárními puchýři"},"uk":{"name":"Аутосомно-домінантна фокальна неепідермолітична долонно-підошовна кератодермія з підошовними пухирями","definition":"A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis."},"zh":{"name":"常染色体显性局灶性非表皮松解性掌跖角化病伴足底起疱","definition":"一种罕见的，遗传的，单发的局灶性掌跖角化病，其特征为脚掌的皮肤局灶性增厚，与少量或无指甲受累。患者经常表现出非表皮溶解性疼痛性足底水疱，并偶尔出现轻微的口腔白化病或足底多汗症。"},"tr":{"name":"Plantar kabarmalı otozomal dominant fokal epidermolitik olmayan palmoplantar keratoderma"}},"xrefs":[{"source":"OMIM","code":"615735","qualifier":"E","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":"0014327","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190822","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":"KRT6C","name":"keratin 6C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21801157[PMID]_19609311[PMID]","hgnc":"20406","ensembl":"ENSG00000170465","omim":"612315","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"21801157[PMID]_19609311[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21801157[PMID]_19609311[PMID]"}],"phenotypes":null}