{"orpha":420686,"name":"Woolly hair-palmoplantar keratoderma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["KWWH type IV","Keratoderma with woolly hair type IV","Woolly hair-palmoplantar hyperkeratosis syndrome"],"definition":"Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420686/","orphanet_url":"https://www.orpha.net/en/disease/detail/420686","names":{"fr":{"name":"Syndrome de cheveux laineux-kératodermie palmoplantaire","synonyms":["KWWH type IV","Kératodermie avec cheveux laineux type IV","Syndrome de cheveux laineux-hyperkératose palmoplantaire"],"definition":"Le syndrome de cheveux laineux-kératodermie palmoplantaire est un trouble épidermique héréditaire très rare, caractérisé par une hypotrichose/des cheveux laineux, des poils, cils et sourcils épars, une leuconychie et une kératodermie palmoplantaire striée (plus sévère sur les plantes des pieds qu'au niveau des paumes) qui empire progressivement avec l'âge. Un pseudo-aïnhum a aussi été rapporté au niveau des cinquièmes orteils. Bien que le syndrome partage des similarités cliniques avec la maladie de Naxos et le syndrome de Carvajal, la cardiomyopathie est absente de manière notable."},"de":{"name":"Wollhaare-Palmoplantarkeratose-Syndrom","synonyms":["KWWH Typ IV","Keratoderm mit Wollhaaren Typ IV","PKK mit Wollhaaren Typ IV","Wollhaare-Palmoplantare Hyperkeratose-Syndrom"],"definition":"Eine sehr seltene, erbliche Epidermisstörung, die gekennzeichnet ist durch Hypotrichose/wollige Kopfhautbehaarung, geringe Körperbehaarung, spärliche Wimpern und Augenbrauen, Leukonychien und streifige Palmoplantarkeratose (an den Fußsohlen stärker ausgeprägt als an den Handflächen), die sich mit zunehmendem Alter verschlimmert. Es wurde auch über Pseudo-Ainhum der fünften Zehen berichtet. Obwohl das Syndrom klinische Ähnlichkeiten sowohl mit der Naxos-Krankheit als auch mit dem Carvajal-Syndrom aufweist, ist eine Kardiomyopathie nicht vorhanden."},"es":{"name":"Síndrome de cabello lanoso-queratodermia palmoplantar","synonyms":["KWWH tipo IV","Queratodermia con pelo lanoso tipo IV","Síndrome de pelo lanoso-hiperqueratosis palmoplantar"],"definition":"El síndrome de cabello lanoso-queratodermia palmoplantar es un trastorno epidérmico hereditario muy poco frecuente caracterizado por hipotricosis/cabello lanoso, reducción del vello corporal, pestañas y cejas, leuconiquia y queratodermia palmoplantar estriada (más intensa en las plantas de los pies que en las palmas de las manos) que empeora progresivamente con la edad. Se ha descrito asimismo un pseudo-ainhum del quinto dedo del pie. Aunque el síndrome de cabello lanoso-queratodermia palmoplantar comparte similitudes clínicas tanto con la enfermedad de Naxos como con el síndrome de Carvajal, no se asocia a cardiomiopatía."},"it":{"name":"Sindrome capelli lanosi-cheratoderma palmoplantare","synonyms":["Cheratoderma con capelli lanosi, tipo IV","KWWH, tipo IV","Sindrome capelli lanosi-ipercheratosi palmoplantare"],"definition":"La sindrome da capelli lanosi-cheratoderma palmo-plantare è una malattia ereditaria molto rara dell'epidermide, caratterizzata da ipotricosi/capelli lanosi, peli, ciglia e sopracciglia rade, leuconichia e cheratoderma palmo-plantare striato (più grave sulla pianta dei piedi, rispetto al palmo delle mani), che si aggrava con l'età. Sono stati descritti casi di pseudo-ainhum del quinto dito del piede. Sebbene la sindrome da capelli lanosi-cheratoderma palmo-plantare presenti alcuni segni clinici simili alla sindrome di Naxos e di Carvajal, non è presente la cardiomiopatia."},"nl":{"name":"Wollig haar - palmoplantaire keratodermie-syndroom","synonyms":["KWWH type IV","Keratodermie met wollig haar type IV","Wollig haar - palmoplantaire hyperkeratose-syndroom"],"definition":"Wollig haar - palmoplantaire keratodermie-syndroom is een zeer zeldzame, erfelijke epidermale stoornis die wordt gekarakteriseerd door hypotrichose/wollig hoofdhaar, schaarse lichaamsbeharing, wimpers en wenkbrauwen, leukonychie, en gestreepte palmoplantaire keratodermie (erger op de voetzolen dan op de handpalmen) die progressief verergert met de leeftijd. Pseudo-ainhum van de vijfde teen werd ook reeds gerapporteerd. Hoewel dit syndroom klinische overeenkomsten vertoont met zowel ziekte van Naxos als syndroom van Carvajal, is er een opmerkelijke afwezigheid van cardiomyopathie."},"pt":{"name":"Síndrome de cabelo lanoso-queratodermia palmoplantar"},"pl":{"name":"Zespół włosów wełnistych i rogowca dłoniowo-podeszwowego","synonyms":["KWWH typu IV","Rogowiec z włosami wełnistymi typu IV","Zespół włosów wełnistych i hiperkeratozy dłoniowo-podeszwowej"]},"cs":{"name":"Syndrom zahrnující vlnité vlasy a palmoplantární keratoderma","synonyms":["KWWH typ IV","Syndrom zahrnující vlnité vlasy a palmoplantární hyperkeratózu","Keratoderma s vlněnými vlasy, typ IV"]},"uk":{"name":"Синдром вовняного волосся-долонно-підошовної кератодермії","synonyms":["Кератодермія з вовняним волоссям IV типу","KWWH тип IV","Синдром шерстяного волосся-долонно-підошовного гіперкератозу"],"definition":"Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent."},"zh":{"name":"羊毛状发-掌跖角化综合征","synonyms":["羊毛状发-掌跖角化综合征"],"definition":"蓬乱毛发-掌跖角化病综合征是一种非常罕见的遗传性表皮疾病，其特征为毛发稀少/头发蓬乱，体毛稀疏，睫毛和眉毛，白甲病，纹状掌跖角化病（足底比手掌严重）且随着年龄的增长。此外还有第五脚趾的箍趾病报道。尽管蓬乱毛发-掌跖角化病综合征与纳克索斯病和卡瓦哈尔综合征在临床表型上都有相似之处，通常不合并心肌病。"},"tr":{"name":"Yünlü saç-palmoplantar keratoderma sendromu","synonyms":["KWWH tip IV","Keratoderma ile seyreden arapsaçı tip IV","Arapsaçı-palmoplantar hiperkeratoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"616099","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.31","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014492","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706686","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98357,"name":"Autosomal recessive disease with focal palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":434809,"name":"Syndrome with woolly hair","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KANK2","name":"KN motif and ankyrin repeat domains 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24671081[PMID]","hgnc":"29300","ensembl":"ENSG00000197256","omim":"614610","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"24671081[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_24671081[PMID]"}],"phenotypes":null}