{"orpha":79141,"name":"Hereditary painful callosities","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPK nummularis","Plamoplantar hyperkeratosis nummularis","Plamoplantar keratoderma nummularis","Keratosis palmoplantaris nummularis"],"definition":"A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79141/","orphanet_url":"https://www.orpha.net/en/disease/detail/79141","names":{"fr":{"name":"Callosités douloureuses héréditaires","synonyms":["Hyperkératose palmoplantaire nummulaire","KPP nummulaire","Kératodermie palmoplantaire nummulaire","PPK nummulaire"],"definition":"Kératodermie palmoplantaire héréditaire focale rare caractérisée par le développement de lésions kératosiques épaisses, douloureuses, non érythémateuses et nummulaires sur les points de pression des pieds et éventuellement des mains. Une atteinte du genou et du tibia, des hyperkératoses péri-unguéales/sous-unguéales et des boursouflures bordant les cals peuvent s'observer dans certains cas."},"de":{"name":"Hautschwielen, hereditäre schmerzhafte","synonyms":["Keratosis palmoplantaris nummularis","PPK nummularis","PPK nummularis Typ Wachters"],"definition":"Eine seltene fokale Palmoplantarkeratose, die durch die Entwicklung von dicken, schmerzhaften, nicht-erythematösen, nummulären keratotischen Läsionen über Druckstellen an Füßen und möglicherweise Händen gekennzeichnet ist. Gelegentlich können Knie- und Schienbeinbeteiligung, periunguale/subunguale Hyperkeratosen und Blasenbildung am Rand der Schwielen beobachtet werden."},"es":{"name":"Callosidades dolorosas hereditarias","synonyms":["Hiperqueratosis palmoplantar numular","PPK numular","Queratodermia palmoplantar numular","Queratosis palmoplantar numular"],"definition":"Es una queratodermia palmoplantar focal poco frecuente caracterizada por el desarrollo de lesiones queratósicas numulares engrosadas, dolorosas y no eritematosas, sobre puntos de presión en los pies y, posiblemente, en las manos. En ocasiones se observa afectación de la rodilla y de la espinilla, hiperqueratosis peri-/ subungueal y ampollas en el borde de los callos."},"it":{"name":"Callosità dolorose ereditarie","synonyms":["Cheratoderma palmoplantare nummulare","Ipercheratosi palmoplantare nummulare","Keratosis palmoplantaris nummularis","PPK nummulare"],"definition":"Si tratta di un cheratoderma palmoplantare focale raro, caratterizzato da lesioni cheratosiche nummulari non eritematose spesse e dolorose, localizzate sui punti di pressione dei piedi e delle mani. Occasionalmente si osserva un interessamento delle ginocchia e delle tibie, ipercheratosi periungueale/subungueale e vesciche sulla superficie dei calli."},"nl":{"name":"Erfelijke pijnlijke eeltplekken","synonyms":["Keratosis palmoplantaris nummularis","PPK nummularis","Palmoplantaire hyperkeratosis nummularis","Palmoplantaire keratodermie nummularis"],"definition":"Een zeldzame, focale palmoplantaire keratodermie gekarakteriseerd door de ontwikkeling van dikke, pijnlijke, niet-erythemateuze, nummulaire keratotische letsels aan drukpunten van de voeten en mogelijk ook de handen. Betrokkenheid van knie en scheen, periunguale/subunguale hyperkeratosen, en blaarvorming aan de rand van eeltplekken kunnen occasioneel waargenomen worden."},"pt":{"name":"Calosidades dolorosas hereditária","synonyms":["Queratose palmo-plantar numular"]},"pl":{"name":"Dziedziczne bolesne stwardnienie skóry","synonyms":["Hiperkeratoza dłoni i stóp pieniążkowata","PPK nummularis","Rogowacenie dłoni i stóp pieniążkowate","Rogowiec dłoni i stóp pieniążkowaty"]},"cs":{"name":"Numulární (penízková) palmoplantární keratóza","synonyms":["Hereditární bolestivé otlaky","PPK nummularis","Palmoplantární hyperkeratosis nummularis","Palmoplantární keratoderma nummularis"]},"uk":{"name":"Спадкові болючі мозолі","synonyms":["Кератоз долонь пальмоплантаріс нуммуляріс","Пламоплантарний гіперкератоз нуммулярний","Пламоплантарна нуммулярна кератодермія","PPK nummularis"],"definition":"A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed."},"zh":{"name":"遗传性疼痛性胼胝","synonyms":["钱币状掌跖角化过度"]},"tr":{"name":"Kalıtsal ağrılı nasırlıklar","synonyms":["PPK nummularis","Keratoz palmoplantaris nummularis","Plamoplantar keratoderma nummularis","Plamoplantar hiperkeratozis nummularis"]}},"xrefs":[{"source":"OMIM","code":"114140","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":"index","validated":true,"icd11_uri":"1918712316"},{"source":"MONDO","code":"0007248","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566180","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861964","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"646376[PMID]_3812560[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_646376[PMID]_3812560[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012531","label":"Pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005588","label":"Patchy palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null}]}}