{"orpha":79502,"name":"Punctate palmoplantar keratoderma type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPKP2","PPPP","Porokeratosis punctata palmaris et plantaris","Punctate palmoplantar hyperkeratosis type 2"],"definition":"Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79502/","orphanet_url":"https://www.orpha.net/en/disease/detail/79502","names":{"fr":{"name":"Kératodermie palmoplantaire ponctuée type 2","synonyms":["Hyperkératose palmoplantaire ponctuée type 2","KPPP2","PPKP2","PPPP","Porokeratosis punctata palmaris et plantaris"],"definition":"Un type de kératodermie palmoplantaire ponctuée héréditaire isolée, caractérisée par de multiples projections hyperkératosiques (« kératose en épines »), asymptomatiques, fermes, de 1-2 mm de long, situées au niveau des paumes, des plantes de pied et des doigts (limitées surtout à leur face volaire et/ou latérale). Sur le plan histopathologique, une parakératose columnaire compacte est observée, située sur un épiderme hypo- ou agranulaire."},"de":{"name":"Palmoplantarkeratose, punktierte, Typ 2","synonyms":["Hypokeratose, palmoplantare punktierte, Typ 2","PPKP2","PPPP","Porokeratosis punctata palmaris et plantaris"],"definition":"Die punktierte Palmoplantarkeratose Typ 2 ist eine Form der isolierten hereditären Palmoplantarkeratose, die durch multiple, asymptomatische, 1 bis 2 mm lange, feste, hyperkeratotische Ausstülpungen (\"Stachelkeratose\") an den Handflächen, Fußsohlen und Zehen (typischerweise auf deren volare und/oder laterale Aspekte beschränkt) gekennzeichnet ist. Histopathologisch wird eine kompakte säulenförmige Parakeratose über hypo- oder agranulärer Epidermis beobachtet."},"es":{"name":"Queratodermia palmoplantar punctata tipo 2","synonyms":["Hiperqueratosis palmoplantar punctata tipo 2","PPKP2","PPPP","Poroqueratosis punctata palmar y plantar","Poroqueratosis punctata palmaris y plantaris"],"definition":"Es un tipo de queratodermia palmoplantar punctata aislada hereditaria, caracterizada por múltiples proyecciones hiperqueratósicas asintomáticas, firmes, de 1 a 2 mm de longitud (\"queratosis espinosa\") en las palmas, plantas y dígitos (normalmente limitados a sus superficies palmares y/o laterales). Histopatológicamente, se observa paraqueratosis columnar compacta sobre epidermis hipo- o agranular."},"it":{"name":"Cheratoderma palmoplantare puntato tipo 2","synonyms":["Ipercheratosi palmoplantare puntata, tipo 2","PPKP2","PPPP","Porocheratosi puntata palmare e plantare"],"definition":"Il cheratoderma palmoplantare tipo 2 è una forma di cheratoderma palmoplantare puntato isolato ereditario, caratterizzato da proiezioni ipercheratosiche multiple solide e asintomatiche, della lunghezza di 1-2 mm (''cheratosi spinulare'') localizzate sul palmo delle mani, sulla pianta dei piedi e sulle dita (di solito limitate alla superficie volare e/o laterale). Dal punto di vista isto-patologico, si osserva una paracheratosi colonnare compatta su un'epidermide ipogranulare o agranulare."},"nl":{"name":"Keratoderma palmoplantaris punctata type 2","synonyms":["PPKP2","PPPP","Porokeratosis punctata palmaris et plantaris","Puntvormige hyperkeratose van handpalm of voetzool type 2","Puntvormige palmoplantaire hyperkeratose type 2","Puntvormige palmoplantaire keratodermie type 2"],"definition":"Puntvormige palmoplantaire keratodermie type 2 is een type geïsoleerde, puntvormige, erfelijke palmoplantaire keratodermie die gekarakteriseerd wordt door multipele, asymptomatische, 1 tot 2 mm-lange, stevige, hyperkeratotische projecties ('stekelige keratose') op de handpalmen, voetzolen en vingers/tenen (doorgaans beperkt tot de volaire en/of laterale zijden). Histopathologisch wordt compacte cilindrische parakeratose bovenop hypo- of agranulaire epidermis waargenomen."},"pt":{"name":"Queratodermia palmoplantar punctiforme tipo 2","synonyms":["Hiperqueratose palmoplantar punctiforme tipo 2","PPKP2","PPPP","Poroqueratose punctiforme palmar e plantar"]},"pl":{"name":"Punktowy rogowiec dłoniowo-podeszwowy typu 2","synonyms":["PPKP2","PPPP","Punktowa hiperkeratoza dłoni i stóp typu 2","Punktowe rogowacenie dłoniowo-podeszwowe typu 2"]},"cs":{"name":"Keratoderma palmoplantaris punctata, typ 2","synonyms":["PPKP2","PPPP","Tečkovaná palmoplantární hyperkeratóza"]},"uk":{"name":"Точкова долонно-підошовна кератодермія, тип 2","synonyms":["Порокератоз долонної та підошовної частини пальців","PPKP2","PPPP","Точковий долонно-підошовний гіперкератоз 2 типу"],"definition":"Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed."},"zh":{"name":"点状掌跖角皮病2型","synonyms":["点状掌跖角皮病2型"]},"tr":{"name":"Punktat palmoplantar keratoderma tip 2","synonyms":["PPPP","PPKP2","Punktata palmoplantar hiperkeratoz tip 2"]}},"xrefs":[{"source":"OMIM","code":"175860","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1514121312"},{"source":"MONDO","code":"0008292","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867982","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4439","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":736,"name":"Palmoplantar porokeratosis of Mantoux","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":2338,"name":"Isolated punctate palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"2525006[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2525006[PMID]"}],"phenotypes":null}