{"orpha":241,"name":"Dyschromatosis universalis hereditaria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-241/","orphanet_url":"https://www.orpha.net/en/disease/detail/241","names":{"fr":{"name":"Dyschromatose héréditaire universelle","definition":"Anomalie génétique rare de la pigmentation cutanée caractérisée par la présence généralisée et asymptomatique de macules hyper- et hypopigmentées de disposition réticulaire et de forme irrégulière sur le tronc et les membres et parfois sur le visage. La paume des mains, la plante des pieds et les muqueuses sont généralement épargnées. Dans de rares cas, des anomalies systémiques ont été rapportées."},"de":{"name":"Dyschromatosis universalis hereditaria","definition":"Eine seltene, genetisch bedingte Pigmentierungsanomalie der Haut, die durch generalisierte, unregelmäßig geformte, asymptomatische, hyper- und hypopigmentierte Makulae gekennzeichnet ist, die in einem netzartigen Muster verteilt sind und den Rumpf, die Gliedmaßen und manchmal das Gesicht betreffen. Die Handflächen, Fußsohlen und Schleimhäute sind normalerweise nicht betroffen. Systemische Anomalien sind selten berichtet worden."},"es":{"name":"Discromatosis universal hereditaria","definition":"Es una anomalía de origen genético y poco frecuente de la pigmentación cutánea caracterizada por la presencia generalizada de máculas hiper- e hipopigmentadas asintomáticas de morfología irregular, distribuidas según un patrón reticular que afecta al tronco, las extremidades y ocasionalmente a la cara. Por lo general, las palmas, plantas y mucosas no se ven afectadas. Excepcionalmente se han descrito anomalías sistémicas."},"it":{"name":"Discromatosi universale ereditaria","definition":"Si tratta di un'anomalia genetica rara della pigmentazione della cute, caratterizzata da macule iper- e ipo-pigmentate asintomatiche generalizzate, di forma irregolare, distribuite secondo uno schema reticolare sul tronco, sugli arti e, in alcuni pazienti, sul viso, mentre di solito non interessano il palmo delle mani, la pianta dei piedi e le mucose. Raramente si associa ad anomalie sistemiche."},"nl":{"name":"Dyschromatosis universalis hereditaria","definition":"Een zeldzame, genetische anomalie van de huidpigmentatie gekarakteriseerd door gegeneraliseerde, onregelmatig gevormde, asymptomatische, hyper- en hypogepigmenteerde maculae verspreid in een reticulair patroon over de romp, ledematen, en soms het gelaat. De handpalmen, voetzolen en slijmvliezen zijn doorgaans niet aangetast. In zeldzame gevallen werden systemische afwijkingen gerapporteerd."},"pt":{"name":"Discromatose universal hereditária"},"pl":{"name":"Dyschromatoza uniwersalna"},"cs":{"name":"Dyschromatosis universalis hereditaria"},"uk":{"name":"Універсальний спадковий дисхроматоз","definition":"A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported."},"zh":{"name":"遗传性泛发性色素异常病"},"tr":{"name":"Diskromatozis universalis hereditaria"}},"xrefs":[{"source":"OMIM","code":"127500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612715","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615402","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"480710406"},{"source":"MONDO","code":"0000736","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930995","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"ABCB6","name":"ATP binding cassette subfamily B member 6 (LAN blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23519333[PMID]","hgnc":"47","ensembl":"ENSG00000115657","omim":"605452","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005590","label":"Spotty hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}