{"orpha":69744,"name":"Circumscribed palmoplantar hypokeratosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Circumscribed acral hypokeratosis"],"definition":"A rare acquired epidermal dysplasia characterized by annular, well-circumscribed patches of erythematous depressed skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69744/","orphanet_url":"https://www.orpha.net/en/disease/detail/69744","names":{"fr":{"name":"Hypokératose palmoplantaire circonscrite","synonyms":["Hypokératose acrale circonscrite"],"definition":"Dysplasie épidermique acquise rare caractérisée par des plaques cutanées circulaires, bien circonscrites, déprimées et érythémateuses."},"de":{"name":"Hypokeratose, palmoplantare zirkumskripte","synonyms":["Umschriebene akrale Hypokeratose"],"definition":"Eine seltene erworbene epidermale Dysplasie, die durch ringförmige, gut umschriebene Flecken mit erythematöser, abgesunkener Haut gekennzeichnet ist."},"es":{"name":"Hipoqueratosis palmoplantar circunscrita","synonyms":["Hipoqueratosis acral circunscrita"],"definition":"Es una displasia epidérmica adquirida poco frecuente caracterizada por máculas anulares, bien delimitadas, eritematosas y deprimidas."},"it":{"name":"Ipocheratosi palmoplantare circoscritta","synonyms":["Ipocheratosi acrale circoscritta"]},"nl":{"name":"Circumscripte palmoplantaire hypokeratose","synonyms":["Begrensde palmoplantaire hypokeratose","Circumscripte acrale hypokeratose"],"definition":"Een zeldzame verworven epidermale dysplasie, gekenmerkt door ringvormige, scherp begrensde plekken van erythemateuze ingezonken huid."},"pt":{"name":"Hipoqueratose palmo-plantar circunscrita","synonyms":["Hipoqueratose acral circunscrita"],"definition":"Displasia epidérmica adquirida rara, caracterizada por manchas anulares e bem circunscritas de pele deprimida e eritematosa."},"pl":{"name":"Ograniczona hipokeratoza dłoniowo-podeszwowa","synonyms":["Circumscribed acral hypokeratosis"]},"cs":{"name":"Cirkumskripční palmoplantární kypokeratóza","synonyms":["Circumscribed acral hypokeratosis"]},"uk":{"name":"Окреслений долонно-підошовний гіпокератоз","synonyms":["Циркулярний акральний гіпокератоз"],"definition":"A rare acquired epidermal dysplasia characterized by annular, well-circumscribed patches of erythematous depressed skin."},"zh":{"name":"局限性掌趾角化不全"},"tr":{"name":"Çevreleyen palmoplantar hipokeratoz"}},"xrefs":[{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EK90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019076","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406762","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"16700830[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-16","source":"24068139[PMID]_28502096[PMID]","terms":[{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010486","label":"Abnormality of the hypothenar eminence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100872","label":"Abnormality of the plantar skin of foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001227","label":"Abnormality of the thenar eminence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Very frequent (99-80%)","criteria":null}]}}