{"orpha":79151,"name":"Acrokeratosis verruciformis of Hopf","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AKV of Hopf"],"definition":"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79151/","orphanet_url":"https://www.orpha.net/en/disease/detail/79151","names":{"fr":{"name":"Acrokératose verruciforme de Hopf","synonyms":["AKV de Hopf"],"definition":"Acrokératodermie génétique rare caractérisée par de multiples papules, symétriques, asymptomatiques, de couleur chair (rarement brunâtre), à sommet plat, ressemblant à des verrues, situées sur la face dorsale des mains et des pieds (parfois sur d'autres parties du corps, telles que les genoux, les coudes et les avant-bras), généralement associées à une kératodermie palmoplantaire ponctuée et à une atteinte variable des ongles (dont leuconychie, épaississement, crêtes, stries longitudinales et dédoublement). L'examen histologique met en évidence une hyperkératose serpigineuse, une papillomatose, une hypergranulose et une acanthose, conférant aux structures un aspect caractéristique en « flèche d'église », en l'absence d'association avec une acantholyse et une dyskératose."},"de":{"name":"Acrokeratosis verruciformis Hopf","definition":"Eine seltene, genetisch bedingte Akrokeratodermie, die durch multiple, symmetrische, asymptomatische, hautfarbene (selten bräunliche), flache, warzenähnliche Papeln auf der Dorsalseite der Hände und Füße gekennzeichnet ist (gelegentlich auch an anderen Körperteilen wie Knien, Ellenbogen und Unterarmen), typischerweise in Verbindung mit palmoplantarer punktförmiger Keratose und variabler Nagelbeteiligung (einschließlich Leukonychien, Verdickungen, Rillen, Längsstreifen und Spaltungen). Die Histologie zeigt wellenförmige Hyperkeratose, Papillomatose, Hypergranulose und Akanthose, die ein charakteristisches \"Kirchturm\"-Erscheinungsbild erzeugen, ohne dass Akantholyse oder Dyskeratose damit einhergehen."},"es":{"name":"Acroqueratosis verruciforme de Hopf","definition":"Es una acroqueratodermia genética y poco frecuente caracterizada por múltiples pápulas planas de tipo verrucosas, del color de la piel (excepcionalmente parduzcas), simétricas y asintomáticas, localizadas en el dorso de las manos y de los pies (ocasionalmente pueden encontrarse en otras partes del cuerpo, tales como rodillas, codos y antebrazos), típicamente asociadas a queratosis punctata palmoplantar y afectación ungueal variable (incluyendo leuconiquia, engrosamiento, crestas, estrías longitudinales y fisuras). La histología revela hiperqueratosis ondulante, papilomatosis, hipergranulosis y acantosis, mostrando una configuración característica en \"campanario de iglesia\", sin acantólisis ni disqueratosis asociada."},"it":{"name":"Acrocheratosi verruciforme di Hopf","definition":"È un acrocheratoderma genetico raro, caratterizzato da papule multiple simmetriche simili a verruche, asintomatiche, dello stesso colore della cute (raramente tendenti al marrone) e con una superficie piatta, localizzate sul dorso delle mani e dei piedi (occasionalmente interessano altre parti del corpo, come le ginocchia, i gomiti e gli avambracci), di solito associate a cheratosi palmoplantare puntata e al coinvolgimento variabile delle unghie (leuconichia, ispessimento, formazione di creste, striature longitudinali e rottura). Gli esami istologici evidenziano ipercheratosi ondulata, papillomatosi, ipergranulosi ed acantosi, da cui deriva il caratteristico aspetto ''a guglia'', in assenza di acantolisi o discheratosi."},"nl":{"name":"Acrokeratosis verruciformis van Hopf","synonyms":["AKV van Hopf"],"definition":"Een zeldzame, genetische acrokeratodermie die gekarakteriseerd wordt door multipele, symmetrische, asymptomatische, huidkleurige (zelden bruinige), afgeplatte, wratachtige papels gesitueerd op de dorsale delen van de handen en voeten (occasioneel op andere lichaamsdelen, zoals knieën, ellebogen en onderarmen), doorgaans geassocieerd met palmoplantaire puntvormige keratose en variabele betrokkenheid van nagels (inclusief leukonychie, verdikking, groeven, longitudinale strepen en splijting). Histologie toont golvende hyperkeratose, papillomatose, hypergranulose, en acanthose, wat zorgt voor een kenmerkend \"torenspits\"-uiterlijk, zonder geassocieerde acantholyse of dyskeratose."},"pt":{"name":"Acroqueratose verruciforme de Hopf"},"pl":{"name":"Rogowacenie brodawkowate dłoni i stóp Hopfa","synonyms":["AKV of Hopf"]},"cs":{"name":"Hopfova veruciformní akrokeratóza","synonyms":["AKV of Hopf"]},"uk":{"name":"Акрокератоз верукозний Хопфа","synonyms":["AKV з Хопфа"],"definition":"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated."},"zh":{"name":"Hopf疣状肢端角化病","synonyms":["AKV of Hopf"]},"tr":{"name":"Hopf akrokeratoz verruciformis","synonyms":["Hopf'un AKV'si"]}},"xrefs":[{"source":"OMIM","code":"101900","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"557093783"},{"source":"MONDO","code":"0007048","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265971","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069445","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79356,"name":"Acrokeratoderma","classifications":[187]},{"orpha":183441,"name":"Genetic acrokeratoderma","classifications":[156]}],"children":[],"genes":[{"symbol":"ATP2A2","name":"ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12542527[PMID]","hgnc":"812","ensembl":"ENSG00000174437","omim":"108740","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-02","source":"16150218[PMID]_3072593[PMID]_12542527[PMID]","terms":[{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025114","label":"Hypergranulosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025512","label":"Skin-colored papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001820","label":"Leukonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007530","label":"Punctate palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Excluded (0%)","criteria":null}]}}