{"orpha":293165,"name":"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293165/","orphanet_url":"https://www.orpha.net/en/disease/detail/293165","names":{"fr":{"name":"Syndrome de fragilité cutanée-cheveux laineux-kératodermie palmoplantaire","synonyms":["Syndrome de fragilité cutanée-cheveux laineux-hyperkératose palmoplantaire"],"definition":"Syndrome de dysplasie ectodermique rare d'origine génétique, caractérisé par une fragilité cutanée persistante se manifestant par des vésicules et érosions dues à des traumatismes minimes, des cheveux laineux avec présence inconstante d'une alopécie, une dysplasie unguéale hyperkératosique, une kératodermie palmoplantaire diffuse ou focale avec des fissures douloureuses, en l'absence d'anomalies cardiaques. Une hyperkératose péri-orale peut aussi être associée."},"de":{"name":"Fragile Haut-Wollhaare-Palmoplantarkeratose-Syndrom"},"es":{"name":"Síndrome de piel frágil-cabello lanoso-queratodermia palmoplantar","synonyms":["Síndrome de piel frágil-cabello lanoso-hiperqueratosis palmoplantar"],"definition":"Es un síndrome de displasia ectodérmica genético y poco frecuente. Está caracterizado por una fragilidad persistente de la piel que se manifiesta con ampollas y erosiones tras traumas mínimos, un pelo lanoso con una alopecia variable, displasia ungueal hiperqueratósica, queratodermia palmoplantar difusa o focal con fisuras dolorosas, y sin anomalías cardíacas. También puede tener asociada una hiperqueratosis perioral."},"it":{"name":"Sindrome da fragilità cutanea, capelli lanosi e cheratoderma palmoplantare","synonyms":["Sindrome fragilità cutanea-capelli lanosi-ipercheratosi palmoplantare"],"definition":"La sindrome che associa la fragilità cutanea, i capelli lanosi e il cheratoderma palmoplantare è una displasia ectodermica genetica rara, caratterizzata da fragilità cutanea persistente che si manifesta con vesciche ed erosioni causate da piccoli traumi, capelli lanosi con alopecia di grado variabile, displasia ungueale ipercheratosica e cheratoderma palmoplantare, diffuso o focale, associato a fissurazioni dolorose, in assenza di cardiopatie. I pazienti possono presentare ipercheratosi periorale."},"nl":{"name":"Huidfragiliteit - wollig haar - palmoplantaire keratodermie-syndroom","synonyms":["Huidfragiliteit - wollig haar - palmoplantaire hyperkeratose-syndroom"],"definition":"Huidfragiliteit - wollig haar - palmoplantaire keratodermie-syndroom is een zeldzaam, genetisch ectodermale dysplasiesyndroom, en wordt gekarakteriseerd door aanhoudende fragiliteit van de huid fragiliteit, die zich manifesteert met blaarvorming en erosies door minimaal trauma, wollig haar met variabele alopecie, hyperkeratotische nageldysplasie, diffuse of focale palmoplantaire keratodermie met vorming van pijnlijke kloven, en geen hartanomalieën. Periorale hyperkeratose kan ook geassocieerd zijn."},"pt":{"name":"Síndrome de fragilidade cutânea-cabelo lanoso-queratodermia palmoplantar"},"pl":{"name":"Zespół krucha skóra-włosy wełniste-rogowiec dłoniowo-podeszwowy","synonyms":["Zespół krucha skóra-włosy wełniste-hiperkeratoza dłoniowo-podeszwowa"],"definition":"*Zespół krucha skóra-włosy wełniste-rogowiec dłoniowo-podeszwowy jest rzadką, genetycznie uwarunkowaną dysplazją ektodermalną, która charakteryzuje się utrwaloną kruchością skóry, objawiającą się pęcherzami i nadżerkami już po niewielkim urazie, wełnistymi włosami z łysieniem o różnym stopniu nasilenia, hiperkeratotyczną dysplazją paznokci, rozlanym lub ogniskowym rogowaceniem dłoniowo-podeszwowym z bolesnymi pęknięciami, bez nieprawidłowości serca. Może wystąpić nadmierne rogowacenie skóry wokół ust."},"cs":{"name":"Syndrom zahrnující fragilitu kůže, křehké a kudrnaté vlasy a palmoplantární keratoderma","synonyms":["Syndrom zahrnující fragilitu kůže, křehké a kudrnaté vlasy a palmoplantární hyperkeratózu"]},"uk":{"name":"Синдром крихкості шкіри - шершаве волосся та долонно-підошовна кератодермія","synonyms":["Синдром крихкості шкіри - шерстяного волосся та долонно-підошовний гіперкератоз"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated."},"zh":{"name":"皮肤脆性-毛发-掌跖角化病综合征","synonyms":["皮肤脆性-毛发-掌跖角化病综合征"],"definition":"脆性皮肤-羊毛状发-掌跖角化病综合征是一种罕见的遗传性外胚层发育不良综合征，其特征是持续脆性皮肤，表现为轻微创伤即可引起起疱和糜烂，羊毛状发伴各种脱发，角化过度指甲发育不良，弥漫性或局灶性掌跖角化病伴疼痛性裂口，无心脏异常。可能与口腔周角化过度相关。"},"tr":{"name":"Deri kırılganlığı-yünlü saç-palmoplantar keratoderma sendromu","synonyms":["Deri kırılganlığı-yünlü saç-palmoplantar hiperkeratoz sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755263","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5231","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":434809,"name":"Syndrome with woolly hair","classifications":[156,187]}],"children":[],"genes":[{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11841538[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"20738328[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}