{"orpha":50942,"name":"Striate palmoplantar keratoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Keratosis palmoplantaris striata","Keratosis palmoplantaris striata et areata","Keratosis palmoplantaris varians of Wachters"],"definition":"Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50942/","orphanet_url":"https://www.orpha.net/en/disease/detail/50942","names":{"fr":{"name":"Kératodermie palmoplantaire striée ou en bandes","synonyms":["Hyperkératose palmoplantaire striée ou en bandes","Hyperkératose palmoplantaire type Wachters","KPP striée ou en bandes","Kératodermie palmoplantaire type Wachters","PPK striée ou en bandes"],"definition":"Une kératodermie palmoplantaire focale, isolée et héréditaire, caractérisée par une hyperkératose linéaire le long de la face en flexion des doigts et au niveau des paumes, ainsi que par une hyperkératose focale cutanée plantaire. Les patients présentent un épaississement douloureux de la peau des paumes et des plantes du pied, avec parfois des fissures, la formation de cloques et une hyperhidrose. Dans de rares cas, l'hyperkératose peut s'observer dans d'autres régions (au niveau des genoux ou de la face dorsale des doigts). Sur le plan histopathologique, des espaces intercellulaires agrandis sont observés entre les kératinocytes."},"de":{"name":"Keratosis palmoplantaris striata","synonyms":["Keratosis palmoplantaris striata et areata","Keratosis palmoplantaris varians Wachters"],"definition":"Die Keratosis palmoplantaris striata ist eine isolierte, fokale, hereditäre Palmoplantarkeratose, die durch eine lineare Hyperkeratose entlang der Beugeseite der Finger und an den Handflächen sowie eine fokale Hyperkeratose der Plantarhaut gekennzeichnet ist. Die Patienten präsentieren sich mit schmerzhaften Verdickungen der Haut an Handflächen und Fußsohlen, mit gelegentlicher Rissbildung, Blasenbildung und Hyperhidrose. Selten kann eine Hyperkeratose an anderen Stellen auftreten (Knie, dorsale Seiten der Zehen). Histopatologisch werden verbreiterte Interzellularräume zwischen Keratinozyten beobachtet."},"es":{"name":"Queratodermia palmoplantar estriada","synonyms":["Queratosis palmoplantar estriada","Queratosis palmoplantar estriada y areata","Queratosis palmoplantar varians de Wachters"],"definition":"Es una queratodermia palmoplantar aislada, focal y hereditaria, que se caracteriza por hiperqueratosis lineal a lo largo de los flexores de los dedos y en las palmas, así como hiperqueratosis focal de la piel plantar. Los afectados presentan engrosamiento doloroso de la piel en palmas y plantas, con fisuras, ampollas e hiperhidrosis ocasionales. Excepcionalmente, se puede observar hiperqueratosis en otras áreas (rodillas, parte dorsal de los dígitos). Histopatológicamente, se observan espacios intercelulares ensanchados entre queratinocitos."},"it":{"name":"Cheratoderma palmoplantare striato","definition":"Il cheratoderma palmoplantare striato è un cheratoderma palmoplantare focale isolato ereditario, caratterizzato da ipercheratosi lineare lungo la superficie flessoria delle dita e sul palmo delle mani e da ipercheratosi focale sulla cute della pianta dei piedi. I pazienti presentano ispessimento doloroso della cute del palmo delle mani e della pianta dei piedi, raramente associato a fissurazioni, vesciche ed iperidrosi. Di rado i pazienti presentano ipercheratosi in altre aree del corpo (ginocchia e superficie dorsale delle dita). Dal punto di vista istopatologico, si osserva un ampliamento degli spazi intercellulari tra i cheratinociti."},"nl":{"name":"Keratosis palmoplantaris striata","synonyms":["Keratosis palmoplantaris varians van Wachters","Keratosis palmoplantaris striata et areata"],"definition":"Gegroefde palmoplantaire keratodermie is een geïsoleerde, focale, erfelijke palmoplantaire keratodermie die gekarakteriseerd wordt door lineaire hyperkeratose langs de buigspieren van de vingers en op de handpalmen, alsook focale hyperkeratose van de huid op de voetzolen. Patiënten vertonen pijnlijke verdikking van de huid op handpalmen en voetzolen, met occasioneel vorming van kloven en blaren, en hyperhidrose. In zeldzame gevallen kan hyperkeratose op andere gebieden waargenomen worden (knieën, dorsale delen van de vingers/tenen). Histopathologisch worden verwijde intercellulaire ruimtes tussen keratinocyten waargenomen."},"pt":{"name":"Queratodermia palmoplantar estriada"},"pl":{"name":"Pasmowaty rogowiec dłoni i stóp","synonyms":["Rogowiec dłoni i stóp wariant Wachtersa"]},"cs":{"name":"Keratosis palmoplantaris striata","synonyms":["Keratosis palmoplantaris striata et areata","Wachtersova keratosis palmoplantaris varians","Striatární palmoplantární keratoderma"]},"uk":{"name":"Смугаста долонно-підошвова кератодермія","synonyms":["Кератоз долоневої пластинки смугастий","Кератоз долонь смугастий та ареальний","Кератоз пальмоплантаріс варіацій Вахтерса"],"definition":"Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed."},"zh":{"name":"条纹状掌跖角化病","synonyms":["Wachter型变异型掌跖角化病"]},"tr":{"name":"Çizgili palmoplantar keratoderma","synonyms":["Keratoz palmoplantaris striata","Keratoz palmoplantaris striata ve areata","Wachters keratoz palmoplantaris çeşitleri"]}},"xrefs":[{"source":"OMIM","code":"148700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607654","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612908","qualifier":"BTNT","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":"1171134598"},{"source":"MONDO","code":"0018865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707237","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":[{"symbol":"DSG1","name":"desmoglein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10332028[PMID]_19157795[PMID]","hgnc":"3048","ensembl":"ENSG00000134760","omim":"125670","loci":["18q12.1"]},{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9887343[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]},{"symbol":"KRT1","name":"keratin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11982762[PMID]","hgnc":"6412","ensembl":"ENSG00000167768","omim":"139350","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"19018793[PMID]_19157795[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"19018793[PMID]_19157795[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null}]}}