{"orpha":217407,"name":"Hereditary hypotrichosis with recurrent skin vesicles","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217407/","orphanet_url":"https://www.orpha.net/en/disease/detail/217407","names":{"fr":{"name":"Hypotrichose héréditaire à vésicules cutanées récidivantes","synonyms":["Hypotrichose héréditaire à vésicules cutanées récurrentes"],"definition":"L'hypotrichose héréditaire à vésicules cutanées récidivantes est une affection héréditaire très rare des phanères décrite chez une famille. Elle est caractérisée par une pilosité éparse, fragile ou absente au niveau du cuir chevelu, des sourcils, des cils, des aisselles et du reste du corps, en association avec la formation à plusieurs endroits du cuir chevelu et du corps de vésicules qui éclatent régulièrement et libèrent un liquide aqueux."},"de":{"name":"Hereditäre Hypotrichose mit rezidivierenden Hautbläschen","definition":"Die hereditäre Hypotrichose mit rezidivierenden Hautbläschen ist eine sehr seltene vererbte Störung mit Haarverlust, die nur in 1 Familie beschrieben wurde. Sie ist gekennzeichnet durch spärliche, brüchige oder fehlende Haare der Kopfhaut, Augenbrauen, Wimpern, Achseln und dem Rest des Körpers, verbunden mit Bildung von Bläschen in verschiedenen Teilen der Kopfhaut und des Körpers, die regelmäßig platzen und eine wässrige Flüssigkeit abgeben."},"es":{"name":"Hipotricosis hereditaria con vesículas cutáneas recurrentes","definition":"La hipotricosis hereditaria con vesículas cutáneas recurrentes es un trastorno de pérdida de cabello hereditario y muy poco frecuente, descrito en una sola familia, y que se caracteriza por pelo escaso, frágil o ausente en cuero cabelludo, cejas, pestañas, axilas y resto del cuerpo, asociado con formación de vesículas en varias partes del cuero cabelludo y el cuerpo que con regularidad se rompen y liberan un fluido acuoso."},"it":{"name":"Ipotricosi ereditaria con vescicole cutanee ricorrenti","definition":"L'ipotricosi ereditaria con vescicole cutanee ricorrenti è una malattia ereditaria molto rara con perdita dei peli corporei, descritta in una sola famiglia, caratterizzata da assenza/rarità e fragilità dei capelli e dei peli delle sopracciglia, delle ciglia, delle ascelle e del resto del corpo, associata alla formazione di vescicole in diverse parti del cuoio capelluto e del corpo, che tendono a rompersi lascando uscire un liquido acquoso."},"nl":{"name":"Hereditaire hypotrichose met recidiverende huidblaasjes","definition":"Hereditaire hypotrichose met recidiverende huidblaasjes is een zeer zeldzame, erfelijke aandoening met verlies van haar, beschreven bij een familie, en gekenmerkt door schaars, fragiel of afwezig haar van scalp, wenkbrauwen, wimpers, oksels en de rest van het lichaam, geassocieerd met vorming van blaasjes op verschillende delen van scalp en lichaam die regelmatig openbarsten en waterig vocht vrijzetten."},"pt":{"name":"Hipotricose hereditária com vesículas cutâneas recorrentes"},"pl":{"name":"Dziedziczna hipotrichoza z nawracającymi pęcherzami skóry"},"cs":{"name":"Hereditární hypotrichóza s rekurentními kožními puchýřky"},"uk":{"name":"Спадковий гіпотрихоз з рецидивуючими шкірними пухирцями","definition":"Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid."},"zh":{"name":"遗传性稀毛症伴复发性皮肤水疱","definition":"遗传性稀毛症伴复发性皮肤水疱是一种非常罕见的遗传性脱发疾病，其特征是头发、眉毛、睫毛、腋窝和身体其他部位的毛发稀疏、脆弱或缺失，与头皮和身体各个部位的水疱形成有关，这些水疱会定期破裂并释放出水样液体。"},"tr":{"name":"Tekrarlayan cilt vezikülleri ile seyreden kalıtsal hipotrikoz"}},"xrefs":[{"source":"OMIM","code":"613102","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013136","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751292","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]}],"children":[],"genes":[{"symbol":"DSC3","name":"desmocollin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19765682[PMID]","hgnc":"3037","ensembl":"ENSG00000134762","omim":"600271","loci":["18q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19765682[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19765682[PMID]"}],"phenotypes":null}