{"orpha":281122,"name":"Self-improving collodion baby","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SHCB","SICI","Self-healing collodion baby","Self-improving congenital ichthyosis"],"definition":"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-281122/","orphanet_url":"https://www.orpha.net/en/disease/detail/281122","names":{"fr":{"name":"Bébé collodion à guérison spontanée","synonyms":["SHCB"],"definition":"Le bébé collodion à guérison spontanée (BCGS) est une variante mineure d'ichtyose congénitale de transmission autosomique récessive (ICAR), caractérisée par la présence d'une pellicule de collodion à la naissance qui guérit dans les premières semaines de vie."},"de":{"name":"Selbstheilendes Kollodium-Baby","synonyms":["SHCB"],"definition":"Das Selbstheilende Kollodium-Baby (SHCB) ist eine leichte Variante der autosomal-rezessiven kongenitalen Ichthyose (ARCI) und gekennzeichnet durch eine Kollodiummembran bei Geburt, die in den ersten Lebenswochen abheilt."},"es":{"name":"Bebé colodión autorresolutivo","synonyms":["BCA"],"definition":"El bebé colodión autorresolutivo (SHCB; por sus siglas en inglés) es una variante leve de ictiosis congénita autosómica recesiva (ICAR, consulte este término), caracterizada por la presencia en el nacimiento de una membrana colodión que se cura en las primeras semanas de vida."},"it":{"name":"Collodion baby con regressione spontanea","definition":"Il collodium baby a remissione spontanea (SHCB) è una variante minore dell'ittiosi congenita autosomica recessiva (ARCI; si veda questo termine), caratterizzata dalla presenza, alla nascita, di una membrana di collodio che va incontro a remissione spontanea entro le prime settimane di vita."},"nl":{"name":"Zelfhelende collodionbaby","synonyms":["SHCB"],"definition":"Zelfhelende collodionbaby (SHCB) is een milde variant van autosomaal recessieve congenitale ichthyosis (ARCI; zie deze term), gekenmerkt door de aanwezigheid van een collodionmembraan bij de geboorte dat in de eerste levensweken geneest."},"pt":{"name":"Bébe colódio com regressão espontânea","synonyms":["SHCB"],"definition":"O bebé colódio auto-curável (SHCB) é uma variante minor de ictiose congénita autossómica recessiva (ARCI; ver este termo), caracterizada pela presença de uma membrana colódio à nascença que sara dentro das primeiras semanas de vida."},"pl":{"name":"Samowyleczalny zespół dziecka kolodionowego","synonyms":["SHCB"]},"cs":{"name":"Postižení kůže typu collodion baby se spontánní úpravou","synonyms":["SHCB"]},"uk":{"name":"Самозагоювальний колодіон немовляти","synonyms":["Самовідновлювальна колодіонова дитина","Вроджений іхтіоз, що самовдосконалюється","SHCB","SICI"],"definition":"Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life."},"zh":{"name":"自愈性火棉胶样儿","synonyms":["自愈性先天性鱼鳞病"],"definition":"自愈火棉胶样儿（SHCB）是常染色体隐性遗传先天性鱼鳞病（ARCI；见本术语）的小变种，其特征是出生时有火棉胶膜，生后第一周内痊愈。"},"tr":{"name":"Kendiliğinden iyileşen kolodyum bebek","synonyms":["SHCB","SICI","Kendiliğinden iyileşen kollodion bebek","Kendiliğinden iyileşen doğumsal iktiyoz"]}},"xrefs":[{"source":"OMIM","code":"242100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"242300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606545","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"34721911"},{"source":"MONDO","code":"0017267","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855789","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281097,"name":"Autosomal recessive congenital ichthyosis","classifications":[147,156,187,189]}],"children":[],"genes":[{"symbol":"ALOX12B","name":"arachidonate 12-lipoxygenase, 12R type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19890349[PMID]","hgnc":"430","ensembl":"ENSG00000179477","omim":"603741","loci":["17p13.1"]},{"symbol":"ALOXE3","name":"arachidonate epidermal lipoxygenase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19890349[PMID]","hgnc":"13743","ensembl":"ENSG00000179148","omim":"607206","loci":["17p13.1"]},{"symbol":"TGM1","name":"transglutaminase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12542526[PMID]_19890349[PMID]","hgnc":"11777","ensembl":"ENSG00000092295","omim":"190195","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null}]}}