{"orpha":86819,"name":"Atrichia with papular lesions","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Papular atrichia"],"definition":"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86819/","orphanet_url":"https://www.orpha.net/en/disease/detail/86819","names":{"fr":{"name":"Atrichie avec lésions papuleuses","synonyms":["Atrichie avec lésions papulaires","Atrichie avec papules"],"definition":"L'atrichie avec lésions papuleuses est une forme héréditaire rare d'alopécie caractérisée par une perte de pilosité irréversible au niveau de toutes les zones pileuses du corps au cours de la période néonatale. Elle est associée plus tardivement au développement de lésions papuleuses sur tout le corps et préférentiellement sur le visage et les faces d'extension des extrémités."},"de":{"name":"Atrichie mit papulösen Läsionen","synonyms":["Atrichie mit Papeln"],"definition":"Die Atrichie mit Papeln ist eine seltene erbliche Alopezie-Form und gekennzeichnet durch irreversiblen Haarverlust während der Neugeborenenzeit an allen behaarten Regionen des Körpers. Später kommen am ganzen Körper, besonders aber im Gesicht und an den Streckseiten der Extremitäten, Papeln hinzu."},"es":{"name":"Atriquia con lesiones papulares","synonyms":["Atriquia papular"],"definition":"Es una forma hereditaria poco frecuente de alopecia que se caracteriza por una irreversible pérdida de pelo durante el periodo neonatal en todas las áreas del cuerpo con vello, asociada más tarde con el desarrollo de lesiones papulares por todo el cuerpo, mayoritariamente en la cara y en las superficies extensoras de las extremidades."},"it":{"name":"Atrichia con lesioni papulose","synonyms":["Atrichia papulosa"],"definition":"L'atrichia con lesioni papulose è una forma ereditaria rara dell'alopecia, caratterizzata dalla perdita irreversibile dei capelli e degli altri peli del corpo nel periodo neonatale, che si associa successivamente allo sviluppo di lesioni papulose su tutto il corpo, che tendono a privilegiare la faccia e le superfici estensorie delle estremità."},"nl":{"name":"Atrichie met papulaire laesies","synonyms":["Papulaire atrichie"],"definition":"Een zeldzame, erfelijke vorm van alopecie, gekarakteriseerd door onomkeerbaar haarverlies tijdens de neonatale periode aan alle behaarde lichaamsdelen, later geassocieerd met de ontwikkeling van papulaire laesies over het hele lichaam, met een voorkeur voor aangezicht en strekzijden van ledematen."},"pt":{"name":"Atriquia com lesões papulares"},"pl":{"name":"Brak włosów z wykwitami grudkowymi","synonyms":["Atrichia grudkowa"]},"cs":{"name":"Atrichie s papulárními lézemi","synonyms":["Papulární atrichie"]},"uk":{"name":"Атрихія з папульозними ураженнями","synonyms":["Папульозна атрихія"],"definition":"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities."},"zh":{"name":"无毛症伴丘疹损害","synonyms":["伴丘疹性损害的先天性无毛症"]},"tr":{"name":"Papüler lezyonlar ile seyreden atrişi","synonyms":["Papüler atriji"]}},"xrefs":[{"source":"OMIM","code":"209500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"155531758"},{"source":"MONDO","code":"0008847","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1211,"name":"OBSOLETE: Atrichia-intellectual disability and growth delay syndrome","status":"inactive"}],"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":"HR","name":"HR lysine demethylase and nuclear receptor corepressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18709303[PMID]","hgnc":"5172","ensembl":"ENSG00000168453","omim":"602302","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}