{"orpha":369999,"name":"Diffuse palmoplantar keratoderma with painful fissures","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369999/","orphanet_url":"https://www.orpha.net/en/disease/detail/369999","names":{"fr":{"name":"Kératodermie palmoplantaire diffuse avec fissures douloureuses","definition":"Kératodermie palmoplantaire isolée rare d'origine génétique caractérisée par des lésions hyperkératosiques diffuses non épidermolytiques affectant la paume des mains et la plantes des pieds, associées à une tendance aux fissures douloureuses. Contrairement aux signes cliniques, l'examen histologique met en évidence des signes de kératodermie palmoplantaire striée ou en bandes, accompagnée d'une hyperkératose orthokératosique avec des espaces intercellulaires qui s'élargissent et une perte d'adhérence des kératinocytes dans les couches supérieures de l'épiderme."},"de":{"name":"Diffuse Palmoplantarkeratose mit schmerzhaften Fissuren","definition":"Bei der diffusen Palmoplantarkeratose mit schmerzhaften Fissuren handelt es sich um eine seltene, genetisch bedingte, isolierte Palmoplantarkeratose, die durch nicht epidermolytische, diffuse hyperkeratotische Läsionen sowohl an den Handflächen als auch an den Fußsohlen gekennzeichnet ist und zu schmerzhaften Fissuren neigt. Im Gegensatz zu den klinischen Befunden zeigt die histologische Untersuchung Befunde, die auf eine Keratosis palmoplantaris striata hindeuten, mit Orthohyperkeratose, die sich durch eine Erweiterung der Interzellularräume und eine Desadhäsion der Keratinozyten in den oberen Epidermisschichten auszeichnet."},"es":{"name":"Queratodermia palmoplantar difusa con fisuras dolorosas","definition":"Es una queratodermia aislada, genética y poco frecuente, caracterizada por lesiones hiperqueratósicas difusas, no epidermolíticas, que afectan tanto a las palmas de las manos como a las plantas de los pies, asociadas a una tendencia de fisuración dolorosa. Contrariamente a los hallazgos clínicos, el examen histológico revela hallazgos que sugieren una queratosis palmoplantar estriada con ortohiperqueratosis que presenta ensanchamiento de los espacios intercelulares y discohesión de los queratinocitos en las capas epidérmicas superiores."},"it":{"name":"Cheratoderma palmoplantare diffuso con fissurazioni dolorose","definition":"Il cheratoderma palmoplantare diffuso con fissurazioni dolorose è un cheratoderma palmoplantare isolato genetico raro, caratterizzato da lesioni ipercheratosiche non epidermolitiche diffuse, che interessano il palmo delle mani e la pianta dei piedi, associate a fissurazioni dolorose. A differenza dei segni clinici, l'esame istologico evidenzia una cheratosi palmoplantare striata, con ortoipercheratosi, allargamento degli spazi intercellulari e deiscenza dei cheratociti negli strati superiori dell'epidermide."},"nl":{"name":"Diffuse palmoplantaire keratodermie met pijnlijke fissuren","definition":"Diffuse palmoplantaire keratodermie met pijnlijke fissuren is een zeldzame, genetische geïsoleerde palmoplantaire keratodermie, gekenmerkt door niet-epidermolytische, diffuse hyperkeratotische laesies aan zowel handpalmen als voetzolen, geassocieerd met vatbaarheid voor vorming van pijnlijke fissuren. In tegenstelling tot de klinische bevindingen wekt histologisch onderzoek het vermoeden van keratosis palmoplantaris striata, met orthohyperkeratose die uitzetting van de intercellulaire ruimten en een verlies van adhesie tussen keratinocyten in de bovenste lagen van de epidermis vertoont."},"pt":{"name":"Queratodermia palmoplantar difusa com fissuras dolorosas","definition":"A queratodermia palmoplantar difusa com fissuras dolorosas é uma doença de queratodermia palmoplantar isolada, genética e rara, caracterizada por lesões hiperqueratósicas difusas, não epidermolíticas, que afetam tanto as palmas das mãos como as plantas dos pés, associadas a uma tendência para fissuração dolorosa. Contrariamente aos achados clínicos, o exame histológico revela alterações sugestivas de queratose palmoplantar estriada, com orto-hiperqueratose caracterizada por alargamento dos espaços intercelulares e desadesão dos queratinócitos nas camadas superiores da epiderme."},"pl":{"name":"Rozlany rogowiec dłoniowo-podeszwowy z bolesnymi pęknięciami","definition":"*Rozlany rogowiec dłoniowo-podeszwowy z bolesnymi pęknięciami jest rzadkim, izolowanym schorzeniem z nadmiernym rogowaceniem skóry dłoni i podeszew, które charakteryzuje się nie-epidermolitycznymi, rozlanymi zmianami hiperkeratotycznymi obejmującymi zarówno dłonie, jak i podeszwy, którym towarzyszą bolesne pęknięcia. W przeciwieństwie do objawów klinicznych, badanie histologiczne wykazuje zmiany sugerujące rogowacenie dłoniowo-podeszwowe prążkowane, z cechami ortohyperkeratosis (brak jąder w komórkach, obecność cienkich rogowych blaszek ściśle przylegających do siebie) oraz poszerzenie przestrzeni międzykomórkowych, z nieprawidłową adhezją keratocytów w górnych warstwach naskórka."},"cs":{"name":"Difuzní palmoplantární keratoderma s bolestivými fisurami"},"uk":{"name":"Дифузна долонно-підошовна кератодермія з болючими тріщинами","definition":"A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers."},"zh":{"name":"弥漫性掌跖角化病伴疼痛性裂隙","definition":"弥漫性掌跖角化病合并痛性裂隙是一种罕见的遗传性孤立性掌跖角化病，其特征是非表皮松解性、弥漫性角化过度损害同时影响手掌和脚底，并伴有疼痛性裂开的倾向。与临床不同，组织学检查提示纹状掌跖角化病，并伴有过度正角化，其特征是上表皮细胞间隙增宽，角质细胞脱粘。"},"tr":{"name":"Ağrılı fisür ile seyreden yaygın palmoplantar keratoderma"}},"xrefs":[{"source":"OMIM","code":"148700","qualifier":"NTBT","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018250","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755309","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98349,"name":"Autosomal dominant isolated diffuse 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":"15897387[PMID]","hgnc":"3048","ensembl":"ENSG00000134760","omim":"125670","loci":["18q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"15897387[PMID]"}],"phenotypes":null}