{"orpha":2200,"name":"Focal palmoplantar and gingival keratoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Focal palmoplantar and gingival hyperkeratosis"],"definition":"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2200/","orphanet_url":"https://www.orpha.net/en/disease/detail/2200","names":{"fr":{"name":"Kératodermie palmoplantaire focale et gingivale","synonyms":["Hyperkératose palmoplantaire focale et gingivale"],"definition":"Une forme très rare de kératodermie palmoplantaire focale caractérisée par des lésions hyperkératotiques circonscrites douloureuses au niveau des zones des plantes de pied supportant le poids du corps, une hyperkératose focale modérée des régions palmaires liées à la pression, et un leucokératose asymptomatique limitée à la gencive attachée à la langue et aux lèvres. Les manifestations additionnelles occasionnelles peuvent inclure une hyperhidrose, une kératose folliculaire et une atteinte étendue de la muqueuse buccale."},"de":{"name":"Fokale palmoplantare und gingivale Keratose","synonyms":["Keratose, fokale gingivale palmoplantare","Palmoplantarkeratose, fokale gingivale"],"definition":"Die fokale palmoplantare und gingivale Keratodermie ist eine sehr seltene Form der fokalen Palmoplantarkeratose, die durch schmerzhafte, umschriebene hyperkeratotische Läsionen an belasteten Bereichen der Fußsohlen, mäßige fokale Hyperkeratose an palmaren Druckstellen und eine asymptomatische Leukokeratose gekennzeichnet ist, die auf die labiale und linguale Gingiva beschränkt ist. Weitere gelegentliche Merkmale können Hyperhidrose, follikuläre Keratose und ausgedehnte Mundschleimhautbeteiligung sein."},"es":{"name":"Queratodermia palmoplantar focal y gingival","synonyms":["Hiperqueratosis palmoplantar focal y gingival"],"definition":"Es una forma muy poco frecuente de queratodermia palmoplantar focal caracterizada por lesiones hiperqueratósicas circunscritas y dolorosas en áreas de las plantas de los pies que soportan el peso, hiperqueratosis focal moderada de áreas relacionadas con la presión palmar y una leucoqueratosis asintomática limitada a la encía unida al labio y a la lengua . Otras características ocasionales adicionales pueden incluir hiperhidrosis, queratosis folicular y afectación extensa de la mucosa oral."},"it":{"name":"Cheratoderma focale palmoplantare e gengivale","definition":"Il cheratoderma focale palmoplantare e gengivale è una forma molto rara di cheratoderma palmoplantare focale. È caratterizzato da lesioni ipercheratosiche circoscritte dolorose, localizzate sulle aree della pianta dei piedi che supportano il peso, ipercheratosi focale moderata delle aree del palmo sottoposte a pressione e leucocheratosi asintomatica che interessa esclusivamente le porzioni della gengiva adiacenti alle labbra e alla lingua. Sono rare l'iperidrosi, la cheratosi follicolare e il coinvolgimento massivo della mucosa orale."},"nl":{"name":"Focale palmoplantaire en gingivale keratodermie","synonyms":["Focale palmoplantaire en gingivale hyperkeratose"],"definition":"Focale palmoplantaire en gingivale keratodermie is een zeer zeldzame vorm van focale palmoplantaire keratodermie die gekarakteriseerd wordt door pijnlijke, begrensde hyperkeratotische letsels op gewichtsdragende gebieden van de voetzool, matige focale hyperkeratose van aan druk onderhevige gebieden op de handpalm, en een asymptomatische leukokeratose beperkt tot tandvlees dat is vastgehecht aan lippen en tong. Mogelijke bijkomende occasionele kenmerken zijn onder meer hyperhidrose, folliculaire keratose en uitgebreidere betrokkenheid van het wangslijmvlies."},"pt":{"name":"Queratodermia palmoplantar focal e da gengiva","synonyms":["Hiperqueratose focal palmoplantar e da gengiva"]},"pl":{"name":"Ogniskowy rogowiec dłoni i stóp oraz dziąseł","synonyms":["Ogniskowa hiperkeratoza dłoni i stóp oraz dziąseł"]},"cs":{"name":"Fokální palmoplantární a gingivální keratoderma","synonyms":["Fokální palmoplantární a gingivální hyperkeratóza"]},"uk":{"name":"Фокальна долонно-підошовна та ясенна кератодермія","synonyms":["Вогнищевий долонно-піднебінний та ясенний гіперкератоз"],"definition":"Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement."},"zh":{"name":"局灶性掌跖和牙龈角化病","synonyms":["局限性掌跖和齿龈角化过度"]},"tr":{"name":"Fokal palmoplantar ve gingival keratoderma","synonyms":["Fokal palmoplantar ve gingival hiperkeratoz"]}},"xrefs":[{"source":"OMIM","code":"148730","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":"0007860","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536157","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835650","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3098","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98353,"name":"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"33262878[PMID]_15761417[PMID]_36179229[PMID]_17624145[PMID]_6212891[PMID]_6447853[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33262878[PMID]_15761417[PMID]_36179229[PMID]_17624145[PMID]_6212891[PMID]_6447853[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008399","label":"Circumungual hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007497","label":"Focal friction-related palmoplantar hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000222","label":"Gingival hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008392","label":"Subungual hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null}]}}