{"orpha":2199,"name":"Epidermolytic palmoplantar keratoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diffuse erythrodermic palmoplantar keratoderma, Voerner type","Diffuse erythrodermic palmoplantar keratoderma, Vörner type","EPPK","Epidermolytic palmoplantar keratoderma of Voerner","Epidermolytic palmoplantar keratoderma of Vörner"],"definition":"A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2199/","orphanet_url":"https://www.orpha.net/en/disease/detail/2199","names":{"fr":{"name":"Kératodermie palmoplantaire épidermolytique","synonyms":["EPPK","Hyperkératose palmoplantaire épidermolytique","KPP épidermolytique","Kératodermie palmoplantaire épidermolytique de Voerner","Kératodermie palmoplantaire épidermolytique de Vörner","Kératodermie palmoplantaire érythrodermique diffuse type Voerner","Kératodermie palmoplantaire érythrodermique diffuse type Vörner"],"definition":"Kératodermie palmoplantaire héréditaire rare, non syndromique, caractérisée par une hyperkératose diffuse, d'aspect jaunâtre et épais de la paume des mains et de la plante des pieds, avec une démarcation nette au niveau du bord palmaire et une marge érythémateuse, et par des modifications épidermolytiques visible sur la biopsie cutanée, notamment une vacuolisation périnucléaire, une dégénérescence granulaire des kératinocytes dans la couche épineuse et granulaire, et des agrégats de tonofilaments. Des fissures douloureuses et une hyperhidrose sont fréquemment associées."},"de":{"name":"Epidermolytische palmoplantare Keratose","synonyms":["EPPK","Keratosis palmoplantaris diffusa Vörner","Palmoplantarhyperkeratose Typ Vörner"],"definition":"Eine nicht-syndromale hereditäre Palmoplantarkeratose, die durch eine diffuse, gelbliche, dicke Hyperkeratose der Handinnenflächen und Fußsohlen mit scharfer Begrenzung am volaren Rand und erythematösem Rand sowie durch ein epidermolytisches Läsionsmuster in der Hautbiopsie mit perinukleärer Vakuolisierung, granulärer Degeneration der Keratinozyten in der Stachel- und Körnerschicht und Tonofilamentaggregaten gekennzeichnet ist. Schmerzhafte Fissuren und Hyperhidrose treten häufig auf."},"es":{"name":"Queratodermia palmoplantar epidermolítica","synonyms":["EPPK","Queratodermia palmoplantar epidermolítica tipo Voerner","Queratodermia palmoplantar epidermolítica tipo Vörner","Queratodermia palmoplantar eritrodérmica difusa tipo Voerner","Queratodermia palmoplantar eritrodérmica difusa tipo Vörner"],"definition":"Es una queratodermia palmoplantar hereditaria no sindrómica poco frecuente caracterizada por una hiperqueratosis difusa, amarillenta y gruesa de las palmas y plantas con una demarcación bien definida en el borde volar y con un margen eritematoso, un patrón epidermolítico en la biopsia de piel, incluyendo la vacuolización perinuclear, una degeneración granular de los queratinocitos de la capa espinosa y granular, y haces de tonofilamentos. Con frecuencia se asocia a fisuras dolorosas e hiperhidrosis."},"it":{"name":"Cheratoderma palmoplantare epidermolitico","synonyms":["Cheratoderma palmoplantare epidermolitico di Voerner","Cheratoderma palmoplantare epidermolitico di Vörner","Cheratoderma palmoplantare eritrodermico diffuso, tipo Voerner","Cheratoderma palmoplantare eritrodermico diffuso, tipo Vörner","EPPK"],"definition":"Si tratta di un cheratoderma palmoplantare ereditario non sindromico raro, caratterizzato da ipercheratosi diffusa, giallastra e ispessita del palmo delle mani e della pianta dei piedi, con una netta demarcazione a livello del bordo volare ed un margine eritematoso. La biopsia della cute mostra alterazioni epidermolitiche, con vacuolizzazione perinucleare, degenerazione granulare dei cheratinociti nello strato spinoso e granulare, e aggregati di tonofilamento. Sono comuni le ragadi dolorose e l'iperidrosi."},"nl":{"name":"Epidermolytische palmoplantaire keratodermie","synonyms":["Diffuse erytrodermische palmoplantaire keratodermie, Voerner-type","Diffuse erytrodermische palmoplantaire keratodermie, Vörner-type","EPPK","Epidermolytische keratodermie van handpalm of voetzool","Epidermolytische palmoplantaire keratodermie van Voerner","Epidermolytische palmoplantaire keratodermie van Vörner"],"definition":"Een zeldzame, niet-syndromale, hereditaire palmoplantaire keratodermie, gekarakteriseerd door diffuse, gelige, dikke hyperkeratose van handpalmen en voetzolen met een scherpe begrenzing aan de volaire grens en een erythemateuze rand, en een epidermolytisch patroon van veranderingen bij biopsie van huid, waaronder perinucleaire vacuolisatie, granulaire degeneratie van keratinocyten in stratum spinosum en granulosum, en aggregaten van intermediaire filamenten. Pijnlijke fissuren en hyperhidrose zijn vaak geassocieerd."},"pt":{"name":"Queratodermia palmoplantar epidermolítica","synonyms":["Hiperqueratose palmoplantar localizada acantoqueratolítica","Queratodermia palmoplantar epidermolítica tipo Vorner"]},"pl":{"name":"Rogowiec dłoni i stóp – odmiana epidermolityczna","synonyms":["Epidermolityczny rogowiec dłoni i stóp Voerner","Epidermolityczny rogowiec dłoni i stóp Vörnera","EPPK","Rozlany erytrodermalny rogowiec dłoni i stóp, typu Voernera","Rozlany erytrodermalny rogowiec dłoni i stóp, typu Vörnera"]},"cs":{"name":"Epidermolytická palmoplantární keratoderma","synonyms":["EPPK","Voernerova epidermolytická palmoplantární keratoderma","Vörnerova epidermolytická palmoplantární keratoderma","Difuzní erytrodermická palmoplantární keratoderma, Voernerův typ","Difuzní erytrodermická palmoplantární keratoderma, Vörnerův typ"]},"uk":{"name":"Епідермолітична долонно-підошвова кератодермія","synonyms":["Дифузна еритродермічна долонно-підошовна кератодермія, тип Вернера","Дифузна еритродермічна долонно-підошовна кератодермія, тип Вернера","Епідермолітична долонно-підошовна кератодермія Фоєрнера","Епідермолітична долонно-підошовна кератодермія Вернера","EPPK"],"definition":"A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated."},"zh":{"name":"表皮松解性掌跖角化病","synonyms":["弥散性红皮病型掌跖角化病Voerner型"]},"tr":{"name":"Epidermolitik palmoplantar keratoderma","synonyms":["EPPK","Vörner'in epidermolitik palmoplantar keratoderması","Voerner epidermolitik palmoplantar keratoderması","Yaygın eritrodermik palmoplantar keratoderma, Vörner tipi","Yaygın eritrodermik palmoplantar keratoderma, Voerner tipi"]}},"xrefs":[{"source":"OMIM","code":"144200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620411","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1505856808"},{"source":"MONDO","code":"0007758","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053546","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1721006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2826","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":496,"name":"Thost-Unna palmoplantar keratoderma","status":"inactive"},{"type":"Moved to","orpha":89833,"name":"Palmoplantar keratoderma with tonotubular keratin","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98349,"name":"Autosomal dominant isolated diffuse palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT16","name":"keratin 16","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"8595410[PMID]","hgnc":"6423","ensembl":"ENSG00000186832","omim":"148067","loci":["17q21.2"]},{"symbol":"KRT1","name":"keratin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"16439967[PMID]","hgnc":"6412","ensembl":"ENSG00000167768","omim":"139350","loci":["12q13.13"]},{"symbol":"KRT9","name":"keratin 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12192490[PMID]_12072061[PMID]_23397986[PMID]_24899405[PMID]","hgnc":"6447","ensembl":"ENSG00000171403","omim":"607606","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Ireland","status":"Validated","source":"9856842[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-29","source":"21176769[PMID]_31525823[PMID]","terms":[{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001220","label":"Interphalangeal joint contracture of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032541","label":"Knuckle pad","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025114","label":"Hypergranulosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Occasional (29-5%)","criteria":null}]}}