{"orpha":308013,"name":"Focal acral hyperkeratosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPKP3 without elastoidosis","PPPK3 without elastoidosis","Punctate palmoplantar hyperkeratosis type 3 without elastoidosis","Punctate palmoplantar keratoderma type 3 without elastoidosis"],"definition":"A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-308013/","orphanet_url":"https://www.orpha.net/en/disease/detail/308013","names":{"fr":{"name":"Hyperkératose acrale focale","synonyms":["Hyperkératose palmoplantaire ponctuée type 3 sans élastoïdose","KPPP3 sans élastoïdose","Kératodermie palmoplantaire ponctuée type 3 sans élastoïdose"],"definition":"Maladie rare de l'épiderme caractérisée par des papules et de multiples plaques hyperkératosiques, généralement asymptomatiques, de couleur allant de jaunâtre à chair, situées sur les paumes et la plante des pieds, avec une prédilection pour les bordures palmaires et plantaires. L'examen histologique révèle une orthohyperkératose prononcée recouvrant une dépression cratériforme de l'épiderme, avec une hypergranulose et une acanthose légère, en l'absence de l'élastorrhexis. Les lésions apparaissent dans la deuxième ou troisième décennie de la vie et leur nombre augmente progressivement pendant plusieurs années. La maladie peut être sporadique ou familiale."},"de":{"name":"Hyperkeratose, akrale fokale","synonyms":["PPKP3 ohne Elastoidose","Palmoplantare Hyperkeratose, punktierte, Typ 3, ohne Elastoidose","Palmoplantarkeratose, punktierte, Typ 3, ohne Elastoidose"],"definition":"Eine seltene epidermale Erkrankung, die durch multiple, in der Regel asymptomatische, gelbliche bis fleischfarbene hyperkeratotische Papeln und Plaques an den Handflächen und Fußsohlen gekennzeichnet ist, die sich bevorzugt an palmaren und plantaren Ränder manifestieren. Die histologische Untersuchung zeigt eine ausgeprägte Orthohyperkeratose, die eine kraterförmige Vertiefung in der Epidermis überlagert, mit Hypergranulose und leichter Akanthose, während eine Elastorrhexis fehlt. Die Läsionen treten in der zweiten oder dritten Lebensdekade auf und nehmen über mehrere Jahre hinweg allmählich an Zahl zu. Die Erkrankung kann sporadisch oder familiär bedingt sein."},"es":{"name":"Hiperqueratosis acral focal","synonyms":["Elastoidosis sin PPKP3","Elastoidosis sin PPPK3","Hiperqueratosis palmoplantar punctata tipo 3 sin elastoidosis","Queratodermia palmoplantar punctata tipo 3 sin elastoidosis"],"definition":"Es una enfermedad epidérmica poco frecuente caracterizada por múltiples pápulas y placas hiperqueratósicas, generalmente asintomáticas, de color amarillento/carne, en las palmas y plantas, con preferencia por los márgenes palmar y plantar. El examen histológico muestra una ortohiperqueratosis pronunciada que recubre una depresión crateriforme de la epidermis, con hipergranulosis y acantosis leve, aunque sin elastorrexis. Las lesiones se desarrollan en la segunda o tercera década de la vida y aumentan gradualmente en número durante varios años. La condición puede ser esporádica o familiar."},"it":{"name":"Ipercheratosi acrale focale","synonyms":["Cheratoderma palmoplantare puntato tipo 3, senza elastoidosi","Ipercheratosi palmoplantare puntata tipo 3, senza elastoidosi","PPKP3 senza elastoidosi","PPPK3 senza elastoidosi"],"definition":"Si tratta di una malattia rara dell'epidermide, caratterizzata da papule e placche ipercheratosiche multiple, di solito asintomatiche, giallastre o color carne, localizzate sul palmo delle mani e sulla pianta dei piedi, con una predilezione per i margini palmari e plantari. L'esame istologico mostra ortoipercheratosi marcata localizzata su una depressione crateriforme dell'epidermide, con ipergranulosi e acantosi lieve, in assenza di elastoressi. Le lesioni si manifestano nella seconda o terza decade di vita, e aumentano gradualmente di numero nel corso degli anni. La malattia può essere sporadica o familiare."},"nl":{"name":"Focale acrale hyperkeratose","synonyms":["PPKP3 zonder elastoïdose","PPPK3 zonder elastoïdose","Puntvormige palmoplantaire hyperkeratose type 3 zonder elastoïdose","Keratoderma palmoplantaris punctata type 3 zonder elastoïdose"],"definition":"Een zeldzame epidermale aandoening, gekarakteriseerd door multipele, meestal asymptomatisch, gelige tot vleeskleurige hyperkeratotische papels en plaques op handpalmen en voetzolen, met een voorkeur voor palmaire en plantaire randen. Histologisch onderzoek toont uitgesproken orthohyperkeratose bovenop een kratervormige depressie in epidermis, met hypergranulose en milde acanthose, terwijl elastorrhexis afwezig is. De laesies verschijnen in het tweede of derde levensdecennium en vermeerderen gradueel in aantal gedurende meerdere jaren. De aandoening kan sporadisch of familiaal voorkomen."},"pt":{"name":"Hiperqueratose focal acral"},"pl":{"name":"Hiperkeratoza ogniskowa kończynowa","synonyms":["Hiperkertoza dłoniowo-podeszwowa punktowa typu 3 bez elastoidozy","PPKP3 bez elastoidozy","PPPK3 bez elastoidozy","Rogowiec dłoniowo-podeszwowy punktowy typu 3 bez elastoidozy"]},"cs":{"name":"Fokální akrální hyperkeratóza","synonyms":["PPKP3 bez elastoidózy","PPPK3 bez elastoidózy","Keratosis palmoplantaris punctata, typ 3, bez elastoidózy"]},"uk":{"name":"Фокальний акральний гіперкератоз","synonyms":["PPKP3 без еластоїдозу","PPPK3 без еластоїдозу","Пунктирний долонно-підошовний гіперкератоз типу 3 без еластоїдозу","Пунктирна долонно-підошовна кератодермія типу 3 без еластоїдозу"],"definition":"A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial."},"zh":{"name":"局灶性肢端角化过度","synonyms":["点状掌跖角化病3型不伴类弹性纤维病"]},"tr":{"name":"Fokal akral hiperkeratoz","synonyms":["Elastoidoz ile seyretmeyen PPKP3","Elastoidoz ile seyretmeyen PPPK3","Elastoidoz ile seyretmeyen punktata palmoplantar keratoderma tip 3","Elastoidoz ile seyretmeyen punktata palmoplantar hiperkeratoz tip 3"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.32","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017677","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1302839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307995,"name":"Marginal papular palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}