{"orpha":158008,"name":"Papular xanthoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158008/","orphanet_url":"https://www.orpha.net/en/disease/detail/158008","names":{"fr":{"name":"Xanthome papuleux","definition":"Le xanthome papuleux est une forme d'histiocytose non langerhansienne caractérisée par des lésions cutanées papuleuses ou papulonodulaires, asymptomatiques, non coalescentes, solitaires ou disséminées, de couleur jaune à orange-marron. Elles sont surtout localisées au niveau de la tête, du cou, du tronc et des extrémités (rarement au niveau de la muqueuse buccale), et sont associées à une normolipidémie. Sur le plan microscopique, les lésions consistent en des infiltrats monomorphiques de macrophages xanthomateux et de nombreuses cellules géantes de Touton, avec un infiltrat inflammatoire léger ou absent. Il n'y a généralement pas de maladie systémique associée."},"de":{"name":"Xanthom, papuläres","definition":"Das papuläre Xanthom ist eine Form der Non-Langerhans-Zell-Histiozytose, die durch eine kutane Präsentation von solitären oder disseminierten gelben bis orange-braunen papulösen oder papulonodulären, nicht koaleszierenden, asymptomatischen Hautläsionen gekennzeichnet ist, die sich vorwiegend an Kopf, Hals, Rumpf und Extremitäten (selten an der Mundschleimhaut) befinden, bei Vorliegen einer Normolipidämie. Mikroskopisch bestehen die Läsionen aus einem monomorphen Infiltrat aus xanthomatisierten Makrophagen und zahlreichen Touton-Riesenzellen, mit geringem oder fehlendem entzündlichen Infiltrat. Sie ist in der Regel nicht mit einer systemischen Erkrankung verbunden."},"es":{"name":"Xantoma papular","definition":"Es una forma de histiocitosis de células no-Langerhans caracterizada por la presencia de lesiones cutáneas papulares o papulonodulares, aisladas o diseminadas, de color amarillo a naranja-pardo, no coalescentes y asintomáticas, ubicadas predominantemente en la cabeza, cuello, tronco y extremidades (raramente en la mucosa oral), en presencia de normolipidemia. Microscópicamente, las lesiones consisten en un infiltrado monomorfo de macrófagos xantomatizados y numerosas células gigantes de Touton, con escaso o ausente infiltrado inflamatorio. Por lo general, no se asocia con enfermedad sistémica."},"it":{"name":"Xantoma papuloso","definition":"Lo xantoma papuloso è una forma di istiocitosi a cellule non Langerhans. Esordisce a livello cutaneo sotto forma di lesioni isolate o diffuse, papulari o papulo-nodulari non confluenti e sintomatiche, di colore variabile tra l'arancione e il marrone, localizzate soprattutto su testa, collo, tronco e arti (raramente sulla mucosa orale), in presenza di normolipidemia. Dal punto di vista microscopico, le lesioni sono costituite da infiltrato monomorfo di macrofagi xantomatizzati e numerose cellule giganti di Touton, con infiltrato infiammatorio scarso o assente. Di solito non si associa a malattie sistemiche."},"nl":{"name":"Papulair xanthoom","definition":"Papulair xanthoom is een vorm van niet-Langerhanscelhistiocytose en wordt gekarakteriseerd door cutane presentatie van solitaire of verspreide, gele tot oranje-bruine, papulaire of papulonodulaire, niet samengegroeide, asymptomatische huidlaesies die voornamelijk zijn gesitueerd op het hoofd, de nek/hals, de romp en de ledematen (zelden op het wangslijmvlies), in aanwezigheid van normolipidemie. Microscopisch bestaan de letsels uit monomorf infiltraat van gexanthomatiseerde macrofagen en vele Touton-reuscellen, met weinig of geen inflammatoir infiltraat. Meestal is het niet geassocieerd met systemische ziekte."},"pt":{"name":"Xantoma papular"},"pl":{"name":"Kępki żółte grudkowe"},"cs":{"name":"Papulární xantom"},"uk":{"name":"Папульозна ксантома","definition":"Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease."},"zh":{"name":"丘疹性黄瘤","definition":"丘疹性黄瘤是一种非朗格汉斯细胞型组织细胞增生症，其特征是单发或散发的黄色至橙褐色丘疹或丘疹结节的皮肤表现，以及主要位于头部、颈部、躯干和四肢的(口腔粘膜罕见)非融合性无症状皮肤病灶，伴正常血脂。显微镜下，病变由单晶形黄化巨噬细胞浸润和大量Touton巨细胞组成，炎性浸润很少或不存在。该病通常与系统性疾病无关。"},"tr":{"name":"Papüler ksantom"}},"xrefs":[{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE81","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1137782407"},{"source":"MONDO","code":"0015536","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707373","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":157987,"name":"Non-Langerhans cell histiocytosis","classifications":[187,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-26","source":"3888123[PMID]_23518438[PMID]_25258297[PMID]_15628330[PMID]_16638433[PMID]","terms":[{"hpo":"HP:0001013","label":"Eruptive xanthomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100727","label":"Histiocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Excluded (0%)","criteria":null}]}}