{"orpha":737,"name":"Porokeratosis plantaris palmaris et disseminata","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Palmar, plantar and disseminated porokeratosis"],"definition":"A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-737/","orphanet_url":"https://www.orpha.net/en/disease/detail/737","names":{"fr":{"name":"Porokératose palmoplantaire et disséminée","synonyms":["Porokératose palmaire, plantaire et disséminée"],"definition":"Maladie génétique rare, forme rare de porokératose survenant essentiellement pendant l'adolescence, caractérisée par de petites papules kératosiques prurigineuses ou douloureuses qui apparaissent initialement sur les paumes et les plantes et qui peuvent s'étendre progressivement sur d'autres parties du corps."},"de":{"name":"Porokeratosis plantaris palmaris et disseminata","definition":"Eine seltene genetische Hauterkrankung, die eine seltene Form der Porokeratose darstellt, die hauptsächlich im Jugendalter auftritt und durch kleine juckende oder schmerzhafte keratotische Papeln gekennzeichnet ist, die zunächst an den Handflächen und Fußsohlen auftreten und sich nach und nach auf andere Körperzonen ausbreiten können."},"es":{"name":"Poroqueratosis palmar, plantar y diseminada","definition":"Es una enfermedad de origen genético poco frecuente, y una forma poco común de poroqueratosis que se presenta principalmente en la adolescencia, caracterizada por pequeñas pápulas queratósicas pruriginosas o dolorosas que aparecen inicialmente en las palmas de las manos y las plantas de los pies, y que pueden extenderse gradualmente a otras áreas del cuerpo."},"it":{"name":"Porocheratosi palmoplantare e disseminata","definition":"La porocheratosi palmoplantare e disseminata (PPPD) è una malattia genetica rara e una forma rara di porocheratosi, che esordisce prevalentemente durante l'adolescenza con piccole papule cheratosiche pruriginose o dolorose, che inizialmente compaiono sul palmo delle mani e sulla pianta dei piedi, per poi diffondersi gradualmente in altre aree del corpo."},"nl":{"name":"Porokeratosis plantaris palmaris et disseminata","synonyms":["Palmaire, plantaire en gedissemineerde porokeratose"],"definition":"Een zeldzame, genetische aandoening en een zeldzame vorm van porokeratose die vooral in de adolescentie voorkomt, gekarakteriseerd door kleine, pruritische of pijnlijke keratotische papels die eerst verschijnen op handpalmen en voetzolen, en geleidelijk kunnen verspreiden naar andere gebieden van het lichaam."},"pt":{"name":"Poroqueratose palmo-plantar e disseminada"},"pl":{"name":"Rogowacenie kanalikowate dłoni, podeszw i rozsiane","synonyms":["Rogowacenie kanalikowate dłoni, podeszw i rozsiane"]},"cs":{"name":"Porokeratosis plantaris palmaris et disseminata","synonyms":["Palmární, plantární a diseminovaná porokeratóza"]},"uk":{"name":"Порокератоз долонний та підошовний дисемінований","synonyms":["Долонний, підошовний і поширений порокератоз"],"definition":"A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones."},"zh":{"name":"播散性掌跖汗管角化","synonyms":["掌跖散发性汗孔角化病"]},"tr":{"name":"Porokeratoz plantaris palmaris et disseminata","synonyms":["Palmar, plantar ve yaygın porokeratoz"]}},"xrefs":[{"source":"OMIM","code":"175850","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":"0008291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183444,"name":"Genetic porokeratosis","classifications":[156]},{"orpha":2338,"name":"Isolated punctate palmoplantar keratoderma","classifications":[156,187]},{"orpha":79358,"name":"Porokeratosis","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Pr KANITAKIS Jean[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-23","source":"21929548[PMID]_33491095[PMID]_12932230[PMID]","terms":[{"hpo":"HP:0100872","label":"Abnormality of the plantar skin of foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040211","label":"Abnormality of the skin of the palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025528","label":"Annular cutaneous lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200044","label":"Porokeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null}]}}