{"orpha":38,"name":"Acrokeratoelastoidosis of Costa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AKE","PPKP3","Punctate palmoplantar hyperkeratosis type 3","Punctate palmoplantar keratoderma type 3"],"definition":"A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-38/","orphanet_url":"https://www.orpha.net/en/disease/detail/38","names":{"fr":{"name":"Acro-kérato-élastoïdose de Costa","synonyms":["AKE","Hyperkératose palmoplantaire ponctuée type 3","KPPP3","Kératodermie palmoplantaire ponctuée type 3","PPKP3"],"definition":"Kératodermie palmoplantaire ponctuée rare, caractérisée par de multiples petites papules et plaques hyperkératosiques de couleur jaunâtre, de formes ronde à ovale ou rhomboïde, localisées le plus souvent sur la paume des mains et la plante des pieds, pouvant s'étendre au dos des mains et des pieds dans les cas les plus sévères. L'analyse histopathologique met en évidence une hyperkératose, une hypertrophie épidermique, ainsi qu'une fragmentation et une raréfaction des fibres élastiques. La maladie peut être sporadique ou familiale."},"de":{"name":"Akrokeratoelastoidose Costa","synonyms":["AKE","Hypokeratose, palmoplantare punktierte, Typ 3","PPKP3","Palmoplantarkeratose, punktierte, Typ 3"],"definition":"Eine seltene punktförmige Palmoplantarkeratose, die durch multiple kleine, runde bis ovale oder rhomboide, gelbliche, hyperkeratotische Papeln und Plaques gekennzeichnet ist, die meist an den Handflächen und Fußsohlen auftreten und sich in schweren Fällen auf den Hand- und Fußrücken ausdehnen können. Die histopathologische Analyse zeigt Hyperkeratose, epidermale Hypertrophie sowie Fragmentierung und wenig elastischen Fasern. Die Erkrankung kann sporadisch oder familiär auftreten."},"es":{"name":"Acroqueratoelastoidosis de Costa","synonyms":["AKE","Hiperqueratosis palmoplantar punctata tipo 3","PPKP3","Queratodermia palmoplantar punctata tipo 3"],"definition":"Es una queratodermia palmoplantar puntiforme poco frecuente caracterizada por múltiples pápulas y placas pequeñas, redondas a ovaladas o romboidales, amarillentas e hiperqueratósicas, localizadas más comúnmente en las palmas de las manos y las plantas de los pies, y que en casos graves se extienden potencialmente al dorso de las manos y los pies. El análisis histopatológico muestra hiperqueratosis, hipertrofia epidérmica y fragmentación y rarefacción de fibras elásticas. El trastorno puede ser esporádico o familiar."},"it":{"name":"Acrocheratoelastosi di Costa","synonyms":["AKE","Cheratoderma palmoplantare puntato, tipo 3","Ipercheratosi palmoplantare puntata, tipo 3","PPKP3"]},"nl":{"name":"Acrokerato-elastoïdosis van Costa","synonyms":["AKE","PPKP3","Puntvormige hyperkeratose van handpalm of voetzool type 3","Puntvormige keratodermie van handpalm of voetzool type 3","Puntvormige palmoplantaire hyperkeratose type 3","Puntvormige palmoplantaire keratodermie type 3"],"definition":"Een zeldzame puntvormige palmoplantaire keratodermie, gekenmerkt door meerdere kleine, ronde tot ovale of ruitvormige, gelige, hyperkeratotische papels en plaques doorgaans gesitueerd op handpalmen en voetzolen, met mogelijk uitbreiding naar de dorsale zijde van handen en voeten in ernstige gevallen. Histopathologische analyse toont hyperkeratose, epidermale hypertrofie, en fragmentatie en verlies van elastische vezels. De aandoening kan sporadisch of familiaal optreden."},"pt":{"name":"Acroqueratoelastoidose de Costa","definition":"Queratodermia palmoplantar puntiforme rara caracterizada por múltiplas pápulas e placas pequenas, redondas a ovais ou romboides, amareladas e hiperqueratóticas, mais commumente localizadas nas palmas das mãos e solas dos pés, e potencialmente estendem-se ao dorso das mãos e pés em casos graves. A análise histopatológica mostra hiperqueratose, hipertrofia epidérmica e fragmentação e rarefação das fibras elásticas. A condição pode ser esporádica ou familiar."},"pl":{"name":"Keratoelastoza dłoni i stóp Costa","synonyms":["AKE","PPKP3","Punktowa hiperkeratoza dłoni i stóp typu 3","Punktowy rogowiec dłoni i stóp typu 3","Zrogowacenie punktowe skóry dłoni i podeszew stóp typu 3","Nadmierne rogowacenie skóry dłoni i podeszew typ 3"],"definition":"Rzadki punktowy rogowiec dłoni i stóp charakteryzujący się licznymi małymi, okrągłymi, owalnymi lub romboidalnymi żółtawymi, hiperkeratotycznymi grudkami i blaszkami, najczęściej zlokalizowanymi na dłoniach i podeszwach stóp, w ciężkich przypadkach rozprzestrzeniającymi się na grzbiet dłoni i stóp. Analiza histopatologiczna wykazuje nadmierne rogowacenie i przerost naskórka oraz fragmentację i rozrzedzenie włókien elastyny. Schorzenie może występować sporadycznie lub rodzinnie."},"cs":{"name":"Costova akrokeratoelastoidóza","synonyms":["AKE","PPKP3","Tečkovaná palmoplantární hyperkeratóza, typ 3","Tečkovaná palmoplantární keratoderma, typ 3"]},"uk":{"name":"Акрокератоеластоїдоз Коста","synonyms":["AKE","PPKP3","Пунктирний долонно-підошовний гіперкератоз, тип 3","Пунктирна долонно-підошовна кератодермія, тип 3"],"definition":"A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial."},"zh":{"name":"肋骨肢端角化类弹力纤维病","synonyms":["点状掌跖角化过度3型"]},"tr":{"name":"Kosta akrokeratoelastoidozu","synonyms":["AKE","PPKP3","Punktata palmoplantar keratoderma tip 3","Punktata palmoplantar hiperkeratoz tip 3"]}},"xrefs":[{"source":"OMIM","code":"101850","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":"887086120"},{"source":"MONDO","code":"0007047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0545044","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"125","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":228224,"name":"Acquired dermis elastic tissue disorder with increased elastic tissue","classifications":[187]},{"orpha":79356,"name":"Acrokeratoderma","classifications":[187]},{"orpha":183441,"name":"Genetic acrokeratoderma","classifications":[156]},{"orpha":307995,"name":"Marginal papular palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"CCDC91","name":"coiled-coil domain containing 91","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38627542[PMID]","hgnc":"24855","ensembl":"ENSG00000123106","omim":"617366","loci":["12p11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-27","source":"29634304[PMID]_29080320[PMID]","terms":[{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025167","label":"Fragmented elastic fibers in the dermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002955","label":"Granulomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025114","label":"Hypergranulosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040162","label":"Orthokeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025507","label":"Yellow papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006089","label":"Palmar hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025509","label":"Piezogenic pedal papules","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very rare (<4-1%)","criteria":null}]}}