{"orpha":384,"name":"Huriez syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Palmoplantar hyperkeratosis-sclerodactyly syndrome","Palmoplantar keratoderma-sclerodactyly syndrome","Scleroatrophic syndrome","Sclerotylosis"],"definition":"A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-384/","orphanet_url":"https://www.orpha.net/en/disease/detail/384","names":{"fr":{"name":"Syndrome de Huriez","synonyms":["Sclérotylose","Syndrome d'hyperkératose palmoplantaire-sclérodactylie","Syndrome de kératodermie palmoplantaire-sclérodactylie"],"definition":"Maladie rare de la peau caractérisée par une triade de signes cliniques composée d'une scléro-atrophie congénitale des mains avec sclérodactylie, une kératodermie palmoplantaire et une anomalie des ongles (à savoir, une hypoplasie, des stries, l'hippocratisme digital et une décoloration blanchâtre). Les autres signes cliniques observés sont l'anhidrose palmaire et un risque plus élevé de développer un carcinome épidermoïde à début précoce au niveau des zones cutanées affectées."},"de":{"name":"Huriez-Syndrom","synonyms":["Palmoplantare Hyperkeratose-Sklerodaktylie-Syndrom","Palmoplantarkeratose-Sklerodaktylie-Syndrom","Skleroatrophisches Syndrom","Sklerotylose"],"definition":"Eine seltene genetisch bedingte Hauterkrankung, die durch eine Trias aus kongenitaler Skleroatrophie vorwiegend der Hände mit Sklerodaktylie, Palmoplantarkeratosen und Nagelveränderungen (bestehend aus Hypoplasie, Rillenbildung und Weißverfärbung) gekennzeichnet ist. Zu den weiteren Merkmalen gehören Hypohidrosis palmaris und eine hohe Anfälligkeit für früh auftretende Plattenepithelkarzinome in den betroffenen Hautbereichen."},"es":{"name":"Síndrome de Huriez","synonyms":["Esclerotilosis","Síndrome de hiperqueratosis palmoplantar-esclerodactilia","Síndrome de queratodermia palmoplantar-esclerodactilia","Síndrome escleroatrófico"],"definition":"Es una enfermedad de base genética y poco frecuente de la piel caracterizada por la tríada de escleroatrofia congénita predominantemente de las manos con esclerodactilia, queratodermia palmoplantar y alteraciones ungueales (consistentes en hipoplasia, estrías, acropaquia y decoloración blanca). Otras características adicionales incluyen la hipohidrosis palmar y una elevada susceptibilidad al carcinoma de células escamosas de aparición precoz en las áreas de piel afectadas."},"it":{"name":"Sindrome di Huriez","synonyms":["Sclerotilosi","Sindrome di Huriez","Sindrome ipercheratosi palmoplantare-sclerodattilia","Sindrome scleroatrofica"],"definition":"Si tratta di una malattia genetica rara della cute, caratterizzata dalla triade scleroatrofia congenita (che interessa soprattutto le mani con sclerodattilia), cheratoderma palmoplantare e alterazioni delle unghie (ipoplasia, creste, ippocratismo digitale e decolorazione bianca). Altri segni clinici sono l'ipoidrosi palmare e una marcata predisposizione al carcinoma a cellule squamose ad esordio precoce nelle parti interessate della cute."},"nl":{"name":"Syndroom van Huriez","synonyms":["Palmoplantaire hyperkeratose - sclerodactylie-syndroom","Palmoplantaire keratodermie - sclerodactylie-syndroom","Scleroatrofisch syndroom","Sclerotylose"],"definition":"Een zeldzame, genetische aandoening van huid, gekarakteriseerd door de triade van congenitale sclero-atrofie van voornamelijk handen met sclerodactylie, palmoplantaire keratodermie, en veranderingen van nagels (bestaande uit hypoplasie, geribbelde nagels, trommelstokvingers, en witte verkleuring). Bijkomende kenmerken zijn onder meer hypohidrose van handpalm en hoge susceptibiliteit voor vroeg aanvangend plaveiselcelcarcinoom van aangetaste gebieden van huid."},"pt":{"name":"Síndrome Huriez","synonyms":["Síndrome de hiperqueratose palmo-plantar-esclerodactilia","Síndrome de queratodermia palmo-plantar-esclerodactilia","Síndrome escleroatrófico"]},"pl":{"name":"Zespół Hurieza","synonyms":["Scleroatrophic syndrome","Zespół hiperkeratoza dłoniowo-podeszwowa - sklerodaktylia","Zespół Hurieza"]},"cs":{"name":"Syndrom zahrnující palmoplantární keratoderma a sklerodaktylii","synonyms":["Syndrom zahrnující palmoplantární hyperkeratózu a sklerodaktylii","Skleroatrofický syndrom","Sklerotylóza","Huriezův syndrom"]},"uk":{"name":"Синдром Гурє","synonyms":["Синдром долонно-підошовного гіперкератозу-склеродактилії","Синдром долонно-підошовної кератодермії-склеродактилії","Склероатрофічний синдром","Склеротильоз"],"definition":"A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas."},"zh":{"name":"硬化萎缩综合征","synonyms":["掌跖的角化过度指硬皮病综合征"]},"tr":{"name":"Huriez sendromu","synonyms":["Sklerotiloz","Skleroatrofik sendrom","Palmoplantar keratoderma-sklerodaktili sendromu","Palmoplantar hiperkeratoz-sklerodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"181600","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":"index","validated":true,"icd11_uri":"1466864301"},{"source":"MONDO","code":"0008416","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406767","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8517","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070504","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[],"genes":[{"symbol":"SMARCAD1","name":"SNF2 related chromatin remodeling ATPase with DExD box 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29409814[PMID]","hgnc":"18398","ensembl":"ENSG00000163104","omim":"612761","loci":["4q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"8731679[PMID]_9274637[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8731679[PMID]_9274637[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011838","label":"Sclerodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Very frequent (99-80%)","criteria":null}]}}