{"orpha":530838,"name":"KRT1-related diffuse nonepidermolytic keratoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["KRT1-related diffuse NEPPK"],"definition":"A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-530838/","orphanet_url":"https://www.orpha.net/en/disease/detail/530838","names":{"fr":{"name":"Kératodermie palmoplantaire non épidermolytique associée à KRT1","synonyms":["KPP non épidermolytique associée à KRT1"],"definition":"Kératodermie palmoplantaire diffuse isolée rare d'origine génétique caractérisée par une hyperkératose diffuse et une desquamation fine ou épaisse, bien délimitée, des paumes et des plantes. Parmi les autres signes cliniques figurent des kératoses sous la forme de coussinets des phalanges, une hyperkératose de l'ombilic et des aréoles, une sécheresse diffuse de la peau, une hyperhidrose, un décollement des cuticules (hangnails) et des mycoses fréquentes. L'examen histologique des lésions met en évidence une hyperkératose orthokératosique, une acanthose, une hypergranulose et de légères infiltrations lymphocytaires dans le derme supérieur, sans signes d'épidermolyse."},"de":{"name":"KRT1-assoziierte diffuse nichtepidermolytische Keratose","synonyms":["KRT1-assoziierte diffuse NEPPK"],"definition":"Eine isolierte, genetisch bedingte Form der diffusen Palmoplantarkeratose, die durch eine diffuse Hyperkeratose und eine feine oder dicke, gut abgegrenzte Schuppung der Handinnenflächen und Fußsohlen gekennzeichnet ist. Weitere klinische Befunde sind knöchelpolsterartige Keratosen an den Fingern, Hyperkeratose an Nabel und Warzenhöfen, diffuse trockene Haut, Hyperhidrose, Ablösung der Nagelhaut und häufige Pilzinfektionen. Die histologische Untersuchung der Läsionen zeigt eine orthokeratotische Hyperkeratose, Akanthose, Hypergranulose und geringfügige lymphozytäre Infiltrationen in der oberen Dermis ohne Anzeichen einer Epidermolyse."},"es":{"name":"Queratodermia difusa no epidermolítica asociada a KRT1","synonyms":["NEPPK difusa asociada a KRT1"],"definition":"Es una queratodermia palmoplantar difusa, aislada, de origen genético y poco frecuente localizada en palmas y plantas, caracterizada por una hiperqueratosis difusa moderada a gruesa, bien delimitada. Otros hallazgos clínicos adicionales incluyen, una queratosis en el dorso de los dedos de las manos, hiperqueratosis umbilical y en las areolas, piel seca difusa, hiperhidrosis, padrastros y frecuentes infecciones fúngicas. El examen histológico de las lesiones revela hiperqueratosis ortoqueratósica, acantosis, hipergranulosis y un leve infiltrado linfocitario en la dermis superior sin evidencia de epidermólisis."},"it":{"name":"Cheratoderma diffuso non epidermolitico correlato a KRT1","definition":"Si tratta di un cheratoderma palmoplantare diffuso isolato raro, di origine genetica, caratterizzato da ipercheratosi diffusa ben demarcata, sottile o spessa, che interessa il palmo delle mani e la pianta dei piedi. Altri segni clinici sono la cheratosi delle dita simil-nocche imbottite, l'ipercheratosi dell'ombelico e dell'areola, la secchezza diffusa della cute, l'iperidrosi, lo scollamento delle cuticole e le frequenti infezioni fungine. L'esame istologico delle lesioni mostra ipercheratosi ortocheratosica, acantosi, ipergranulosi e lievi infiltrazioni linfocitarie nel derma superiore, in assenza di epidermolisi."},"nl":{"name":"KRT1-gerelateerde diffuse niet-epidermolytische keratodermie","synonyms":["KRT1-gerelateerde diffuse NEPPK"],"definition":"Een zeldzame, genetische, geïsoleerde diffuse palmoplantaire keratodermie, gekarakteriseerd door diffuse, milde tot dikke, fijn begrensde hyperkeratose aan handpalmen en voetzolen. Bijkomende klinische bevindingen zijn onder meer knokkelkussentjes-achtige keratose aan vingers, hyperkeratose van navel en tepelhof, diffuse droge huid, hyperhidrose, hangnagels en frequente schimmelinfecties. Histologisch onderzoek van laesies toont orthokeratotische hyperkeratose, acanthose, hypergranulose, en milde lymfocytische infiltraties in bovenste delen van dermis zonder aanwijzing van epidermolyse."},"pt":{"name":"Queratodermia não-epidermolítica difusa KRT1-relacionada"},"pl":{"name":"Rogowiec nie-epidermolityczny rozsiany związany z KRT1","synonyms":["KRT1-related diffuse NEPPK"]},"cs":{"name":"KRT1-vázaná difuzní non-epidermolytická keratoderma","synonyms":["KRT1-vázaná difuzní NEPPK"]},"uk":{"name":"KRT1-залежна дифузна неепідермолітична кератодермія","synonyms":["KRT1-залежна дифузна НЕППК"],"definition":"A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis."},"zh":{"name":"KRT1基因相关弥漫性非表皮松解性皮肤角化病","synonyms":["KRT1-related diffuse NEPPK"],"definition":"是一种罕见遗传性、孤立性、弥漫性掌跖角化病，其特征是手掌和足底弥漫性、轻度至厚实、界线清晰的角化过度。其他临床表现还包括手指上的指节垫样角化、脐部和乳晕的过度角化、弥漫性皮肤干燥、多汗症、甲刺和经常性真菌感染。皮损的组织学检查显示正角化性过度角化、棘层肥厚、颗粒层增厚，真皮上层有轻度淋巴细胞浸润，但还没有出现表皮松解。"},"tr":{"name":"KRT1-ilişkili diffüz epidermolitik olmayan keratoderma","synonyms":["KRT1-ilişkili yaygın NEPPK"]}},"xrefs":[{"source":"OMIM","code":"600962","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010962","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10962","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680142","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5186","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":"KRT1","name":"keratin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29489036[PMID]","hgnc":"6412","ensembl":"ENSG00000167768","omim":"139350","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30452289[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-03","source":"7528239[PMID]_29489036[PMID]","terms":[{"hpo":"HP:0007404","label":"Nonepidermolytic palmoplantar keratoderma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001551","label":"Abnormal umbilicus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012203","label":"Onychomycosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001598","label":"Concave nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006203","label":"Decreased movement range in interphalangeal joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032541","label":"Knuckle pad","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007446","label":"Palmoplantar blistering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025524","label":"Palmoplantar scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032523","label":"Tendon thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004690","label":"Thickened Achilles tendon","frequency":"Occasional (29-5%)","criteria":null}]}}