{"orpha":324561,"name":"Hypopigmentation-punctate palmoplantar keratoderma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cole disease","Guttate hypopigmentation and punctate palmoplantar keratoderma","Hypopigmentation and punctate keratosis of the palms and soles"],"definition":"A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324561/","orphanet_url":"https://www.orpha.net/en/disease/detail/324561","names":{"fr":{"name":"Syndrome d'hypopigmentation-kératodermie palmoplantaire ponctuée","synonyms":["Maladie de Cole"],"definition":"Maladie rare de l'épiderme d'origine génétique, caractérisée par une kératodermie palmoplantaire ponctuée associée à des macules hypopigmentées de forme irrégulière (siégeant généralement sur les extrémités). Une calcification ectopique (par exemple, tendinopathie calcifiée à début précoce, calcinose cutanée) et une pachyonychie peuvent être associées dans certains cas."},"de":{"name":"Hypopigmentierung-punktierte Palmoplantarkeratose-Syndrom","synonyms":["Hypopigmentierung und punktförmige Keratose der Handinnenflächen und Fußsohlen","Cole-Krankheit"]},"es":{"name":"Síndrome de hipopigmentación-queratodermia palmoplantar punctata","synonyms":["Enfermedad de Cole","Hipopigmentación guttata y queratodermia palmoplantar punctata","Hipopigmentación y queratosis punctata de palmas y plantas"],"definition":"Es una enfermedad epidérmica de origen genético y poco frecuente caracterizada por queratodermia punteada en palmas y plantas asociada a máculas hipopigmentadas de morfología irregular (localizadas típicamente, en las extremidades). Ocasionalmente, puede asociarse a calcificación ectópica (por ej. tendinopatía calcificada de inicio precoz, calcinosis cutis) y paquioniquia."},"it":{"name":"Sindrome ipopigmentazione-cheratoderma palmoplantare puntato","synonyms":["Ipopigmentazione e cheratosi puntata dei palmi e delle piante","Ipopigmentazione guttata e cheratoderma palmoplantare puntato","Malattia di Cole"],"definition":"È una malattia genetica rara dell'epidermide, caratterizzata da cheratoderma puntato localizzato sul palmo delle mani e sulla pianta dei piedi, associato a macule ipopigmentate di forma irregolare (di solito localizzate sulle estremità). Raramente i pazienti presentano calcificazioni ectopiche (tendinopatia calcifica ad esordio precoce, calcinosi cutanea) e pachionichia."},"nl":{"name":"Hypopigmentatie - puntvormige palmoplantaire keratodermie-syndroom","synonyms":["Guttate hypopigmentatie en puntvormige palmoplantaire keratodermie","Hypopigmentatie en puntvormige hyperkeratose van handpalm of voetzool","Ziekte van Cole"],"definition":"Een zeldzame, genetische, epidermale ziekte die gekarakteriseerd wordt door puntvormige keratodermie op handpalmen en voetzolen, geassocieerd met onregelmatig gevormde, gehypopigmenteerde maculae (doorgaans gesitueerd op de ledematen). Ectopische calcificatie (e.g. calcifiërende tendinopathie met vroege aanvang, calcinosis cutis) en pachyonychia kunnen soms ook geassocieerd zijn."},"pt":{"name":"Síndrome de hipopigmentação-queratodermia palmoplantar punctiforme"},"pl":{"name":"Zespół hipopigmentacja-punktowy rogowiec dłoniowo-podeszwowy","synonyms":["Choroba Cole'a","Guttate hypopigmentation and punctate palmoplantar keratoderma","Hipopigmentacja i punktowe rogowacenie dłoni i podeszw"]},"cs":{"name":"Syndrom zahrnující hypopigmentaci a tečkovaná palmoplantární keratoderma","synonyms":["Coleova nemoc","Kapkovitá hypopigmentace a tečkovaná palmoplantární keratoderma","Hypopigmentace a tečkovaná keratóza dlaní a chodidel"]},"uk":{"name":"Синдром гіпопігментації-пунктирної долонно-підошовної кератодермії","synonyms":["Хвороба Коула","Гуттатева гіпопігментація та точкова долонно-підошовна кератодермія","Гіпопігментація та точковий кератоз долонь і підошов"],"definition":"A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated."},"zh":{"name":"皮肤色素减退-点状掌跖角化病综合征","synonyms":["皮肤色素减退和手掌足底点状角化病"],"definition":"一种罕见的遗传性表皮疾病，以手掌和脚底点状角化为特征，伴有不规则形状的色素减退斑(通常位于四肢)。异位钙化(如早发性钙化性肌腱病、皮肤钙质沉着)和厚甲症偶尔与之相关。"},"tr":{"name":"Hipopigmentasyon-noktalı palmoplantar keratoderma sendromu","synonyms":["Çölyak hastalığı","Guttat hipopigmentasyonu ve noktalı palmoplantar keratoderma","Avuç içi ve ayak tabanlarının hipopigmentasyonu ve punktata keratozu"]}},"xrefs":[{"source":"OMIM","code":"615522","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014227","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809781","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12384","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":308031,"name":"Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[],"genes":[{"symbol":"ENPP1","name":"ectonucleotide pyrophosphatase/phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24075184[PMID]","hgnc":"3356","ensembl":"ENSG00000197594","omim":"173335","loci":["6q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"24075184[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}