{"orpha":100976,"name":"Bathing suit ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BSI"],"definition":"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100976/","orphanet_url":"https://www.orpha.net/en/disease/detail/100976","names":{"fr":{"name":"Ichtyose en maillot de bain","synonyms":["BSI","Bathing suit ichthyosis"],"definition":"L'ichtyose en maillot de bain est une variante d'ichtyose congénitale de transmission autosomique récessive (ICAR) rare, caractérisée par la présence de grandes squames sombres dans des zones spécifiques du corps."},"de":{"name":"Bathing-suit-Ichthyose","synonyms":["BSI","Badeanzug-Ichthyose"],"definition":"Die Badeanzug-Ichthyose (BSI) ist eine seltene Variante der autosomal-rezessiven kongenitalen Ichthyose (ARCI) und gekennzeichnet durch große dunkle Schuppen in spezifischen Bereichen des Körpers."},"es":{"name":"Ictiosis del área del traje de baño","synonyms":["BSI"],"definition":"La ictiosis del área del traje de baño (BSI; por sus siglas en inglés) es una variante poco frecuente de la ictiosis congénita autosómica recesiva (ICAR; consulte este término) caracterizada por la presencia de grandes escamas oscuras en áreas específicas del cuerpo."},"it":{"name":"Ittiosi a costume da bagno","definition":"L'ittiosi a \"costume da bagno\" (BSI) è una variante rara dell'ittiosi congenita autosomica recessiva (ARCI; si veda questo termine) caratterizzata dalla presenza di grandi squame scure in aree specifiche del corpo."},"nl":{"name":"Badpak-ichthyosis","synonyms":["BSI","Bathing suit ichthyosis"],"definition":"Badpak-ichthyosis (BSI) is een zeldzame variant van autosomaal recessieve congenitale ichthyosis (ARCI; zie deze term) gekenmerkt door de aanwezigheid van grote donkere schilfers op specifieke lichaamszones."},"pt":{"name":"Ictiose em fato de banho","definition":"A ictiose em fato de banho (BSI) é uma variante rara de ictiose congénita autossómica recessiva (ARCI, ver este termo), caracterizada pela presença de grandes escamas escuras em áreas específicas do corpo."},"pl":{"name":"Rybia łuska typu Bathing suit","synonyms":["BSI"]},"cs":{"name":"Plavková ichtyóza","synonyms":["BSI"]},"uk":{"name":"Іхтіоз купального костюма","synonyms":["BSI"],"definition":"Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body."},"zh":{"name":"泳衣鱼鳞病","synonyms":["BSI"],"definition":"泳衣鱼鳞病(BSI)是一种罕见的常染色体隐性遗传性先天性鱼鳞病(ARCI；见此术语)，其特征是在身体的特定区域出现大的深色鳞片。"},"tr":{"name":"Banyo iktiyozu","synonyms":["BSI"]}},"xrefs":[{"source":"OMIM","code":"242300","qualifier":"NTBT","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":"174005370"},{"source":"MONDO","code":"0015085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511230","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":"TGM1","name":"transglutaminase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16968736[PMID]_20301593[PMID]","hgnc":"11777","ensembl":"ENSG00000092295","omim":"190195","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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":"2019-06-26","source":"10232404[PMID]_19434086[PMID]_22739337[PMID]_30693114[PMID]_28403434[PMID]","terms":[{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007460","label":"Autoamputation of digits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007479","label":"Congenital nonbullous ichthyosiform erythroderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012472","label":"Eclabion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025524","label":"Palmoplantar scaling skin","frequency":"Excluded (0%)","criteria":null}]}}