{"orpha":158022,"name":"Progressive nodular histiocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158022/","orphanet_url":"https://www.orpha.net/en/disease/detail/158022","names":{"fr":{"name":"Histiocytose progressive nodulaire","definition":"Une histiocytose rare, normolipémique et non langerhansienne caractérisée par le développement progressif de lésions cutanées asymptomatiques multiples à disséminées. L'aspect est variable, allant de plaques jaunes à des papules, des nodules et des tumeurs pédonculées de coloration rouge-marron, ayant tendance à coalescer, et dont la taille peut atteindre 5 cm. Elles sont généralement situées sur le visage, le tronc et les extrémités (rarement au niveau des membranes muqueuses et de la conjonctive). Les caractéristiques microscopiques incluent un infiltrat storiforme de cellules en forme de fuseau infiltrant le derme profond, ainsi que des macrophages xanthomateux et quelques cellules de Touton dans le derme superficiel. Il n'y a généralement pas de maladie systémique associée."},"de":{"name":"Histiozytose, progressive, noduläre","definition":"Die progressive noduläre Histiozytose ist eine seltene, normolipämische Nicht-Langerhans-Zell-Histiozytose, die durch ein progressives Wachstum multipler bis disseminierter, asymptomatischer Hautläsionen gekennzeichnet ist, die in ihrem Erscheinungsbild von gelben Plaques bis zu rotbraunen Papeln (die zur Koaleszenz neigen), Knötchen und gestielten Tumoren mit einer Größe von bis zu 5 cm reichen und typischerweise im Gesicht, am Rumpf und an den Extremitäten (und selten an der Bindehaut und den Schleimhäuten) lokalisiert sind. Zu den charakteristischen mikroskopischen Befunden gehört ein storiformes Spindelzellinfiltrat in der tiefen Dermis mit xanthomatisierten Makrophagen und einigen Touton-Zellen in der oberen Dermis. Sie ist normalerweise nicht mit einer systemischen Erkrankung verbunden."},"es":{"name":"Histiocitosis nodular progresiva","definition":"Es una histiocitosis, de células no-Langerhans, normolipémica y poco frecuente, caracterizada por un crecimiento progresivo de múltiples lesiones cutáneas asintomáticas y diseminadas, cuya apariencia varía desde placas amarillas hasta pápulas de color marrón rojizo, propensas a la coalescencia, nódulos y tumores pedunculados de hasta 5 cm. de tamaño que, por lo general, se encuentran localizados en la cara, tronco y extremidades (y, ocasionalmente, en la conjuntiva y las membranas mucosas). Los hallazgos microscópicos característicos incluyen un infiltrado de células fusiformes y estoriformes en la dermis profunda, con macrófagos xantomatizados y algunas células de Touton en la dermis superior. Por lo general, no se asocia con enfermedad sistémica."},"it":{"name":"Istiocitosi nodulare progressiva","definition":"L'istiocitosi nodulare progressiva è un'istiocitosi rara a cellule non-Langerhans, normolipemica, caratterizzata dalla progressiva comparsa di lesioni cutanee asintomatiche multiple o disseminate, di aspetto variabile (placche gialle, papule rosso-marroni che tendono a confluire, noduli e tumori peduncolati che possono misurare fino a 5 cm), di solito localizzate sul volto, sul tronco e sugli arti (raramente sulla congiuntiva e sulle membrane). L'analisi al microscopio evidenzia un infiltrato storiforme di cellule fusiformi nel derma profondo con macrofagi xantomatosi e alcune cellule di Touton nella porzione superficiale del derma. Di solito non si associa a malattie sistemiche."},"nl":{"name":"Progressieve nodulaire histiocytose","definition":"Progressieve nodulaire histiocytose is een zeldzame, normolipidemische, niet-Langerhanscelhistiocytose die gekarakteriseerd wordt door progressieve groei van meervoudige tot verspreide, asymptomatische huidlaesies met een uiterlijk gaande van gele plaques tot roodbruine papels die vatbaar zijn voor vergroeiing, noduli en gesteelde tumoren tot 5 cm groot, typisch gesitueerd op het gelaat, de romp en de ledematen (en zelden op bindvlies en slijmvlies). Kenmerkende microscopische bevindingen zijn onder meer een storiform spindelcelinfiltraat in de diepe dermis met gexanthomatiseerde macrofagen en enkele Touton-cellen in de bovenste dermis. Meestal is het niet geassocieerd met systemische ziekte."},"pt":{"name":"Histiocitose progressiva nodular"},"pl":{"name":"Postępująca histiocytoza guzowata"},"cs":{"name":"Progresivní nodulární histiocytóza"},"uk":{"name":"Прогресуючий вузловий гістіоцитоз","definition":"Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease."},"zh":{"name":"进行性结节性组织细胞增多症","definition":"进行性结节组织细胞增生症是一种罕见的正常血脂型非朗格汉斯细胞组织细胞增生症，其特征是多发性或播散性进行性生长的无症状皮肤病变，表现为黄色斑块或易于融合的红棕色丘疹、结节和大小达5厘米的带蒂肿瘤，通常位于面部、躯干和四肢(很少位于结膜和粘膜上)。特征性的显微镜表现包括真皮深部有席纹状梭形细胞浸润，且真皮上部有黄色瘤巨噬细胞和Touton细胞。该病通常与全身性疾病无关。"},"tr":{"name":"İlerleyici nodüler histiyositoz"}},"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":"1576286064"},{"source":"MONDO","code":"0015539","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707331","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"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null}]}}