{"orpha":157991,"name":"Generalized eruptive histiocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Generalized eruptive histiocytoma"],"definition":"A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157991/","orphanet_url":"https://www.orpha.net/en/disease/detail/157991","names":{"fr":{"name":"Histiocytose éruptive généralisée","synonyms":["Histiocytome éruptif généralisé"],"definition":"Histiocytose non langerhansienne rare, caractérisée par l'apparition rapide de groupes de petites papules asymptomatiques de couleur rouge à marron, généralement réparties de manière symétrique sur tout le visage, le tronc et les extrémités proximales, occasionnellement accompagnées d'une atteinte de la muqueuse. Les lésions se résorbent spontanément, sans laisser de cicatrices, après un laps de temps variable et ne récidivent pas dans la plupart des cas. L'analyse histopathologique révèle une infiltration diffuse et uniforme du derme par des histiocytes non xanthomateux positifs pour CD68 et Ki-M1p à la coloration. Des cellules géantes multinucléées peuvent parfois être observées."},"de":{"name":"Histiozytose, eruptive generalisierte","synonyms":["Histiozytom, eruptives generalisiertes"],"definition":"Eine seltene Form der Non-Langerhans-Zell-Histiozytose, die durch ein schnelles Auftreten von asymptomatischen kleinen roten bis braunen Papeln gekennzeichnet ist, die sich typischerweise symmetrisch über das Gesicht, den Rumpf und die proximalen Extremitäten verteilen und gelegentlich auch die Schleimhäute betreffen. Die Läsionen bilden sich nach einer variablen Zeitspanne spontan ohne Narbenbildung zurück und treten in den meisten Fällen nicht wieder auf. Die Histopathologie zeigt eine diffuse, gleichmäßige Infiltration der Haut mit nicht-xanthomatösen Histiozyten, die positiv für CD68 und Ki-M1p gefärbt sind. Gelegentlich können auch mehrkernige Riesenzellen gefunden werden."},"es":{"name":"Histiocitosis eruptiva generalizada","synonyms":["Histiocitoma eruptivo generalizado"],"definition":"Es una histiocitosis poco frecuente de células no-Langerhans caracterizada por el inicio rápido de pequeñas pápulas asintomáticas de color rojizo a marrón, por lo general distribuidas simétricamente por la cara, el tronco y la parte proximal de las extremidades y que pueden afectar ocasionalmente a la membrana mucosa. Las lesiones remiten de manera espontánea sin dejar lesiones cicatriciales después de un lapso de tiempo variable, sin recidiva en la mayoría de los casos. La histopatología revela un infiltrado dérmico difuso y uniforme con histiocitos no xantomatosos positivos para CD68 y Ki-M1p y, en ocasiones, con células gigantes multinucleadas."},"it":{"name":"Istiocitosi generalizzata eruttiva","synonyms":["Istiocitoma generalizzato eruttivo"],"definition":"Si tratta di una istiocitosi rara a cellule non-Langerhans, caratterizzata dalla rapida comparsa di gruppi di piccole papule asintomatiche di colore rosso-marrone, di solito distribuite simmetricamente sul viso, sul tronco e sulla porzione prossimale degli arti, occasionalmente con un interessamento delle mucose. Le lesioni si risolvono spontaneamente in un tempo variabile senza lasciare cicatrici e, nella maggior parte dei pazienti, non recidivano. L'esame istopatologico evidenzia un'infiltrazione diffusa e uniforme del derma, con istiociti non xantomatosi positivi alla colorazione CD68 e Ki-m1p. Occasionalmente si osservano cellule giganti multinucleate."},"nl":{"name":"Gegeneraliseerde eruptieve histiocytose","synonyms":["Gegeneraliseerd eruptief histiocytoom"],"definition":"Een zeldzame niet-Langerhanscel histiocytose, gekarakteriseerd door snelle aanvang van groepjes asymptomatische kleine rode tot bruine papels, doorgaans symmetrisch verdeeld over aangezicht, romp, en proximale ledematen, occasioneel met betrokkenheid van slijmvlies. De laesies verdwijnen spontaan zonder littekenvorming na een variabele tijdspanne en keren in de meeste gevallen niet terug. Histopathologie toont diffuse, uniforme dermale infiltratie met niet-xanthomateuze histiocyten die positief kleuren voor CD68 en Ki-M1p. Soms kunnen multinucleaire reuscellen aangetroffen worden."},"pt":{"name":"Histiocitose generalizada eruptiva"},"pl":{"name":"Histiocytoza uogólniona","synonyms":["Generalized eruptive histiocytoma"]},"cs":{"name":"Generalizovaná eruptivní histiocytóza","synonyms":["Generalizovaný eruptivní histiocytom"]},"uk":{"name":"Генералізований еруптивний гістіоцитоз","synonyms":["Генералізована еруптивна гістіоцитома"],"definition":"A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found."},"zh":{"name":"泛发性发疹性组织细胞增生病","synonyms":["泛发性发疹性组织细胞瘤"]},"tr":{"name":"jeneralize erüptif histiyositoz","synonyms":["Jeneralize eruptiv histiyositoma"]}},"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":"189754499"},{"source":"MONDO","code":"0015532","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0347404","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"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-15","source":"14060074[PMID]_25923837[PMID]_14699379[PMID]_14746649[PMID]_17989894[PMID]","terms":[{"hpo":"HP:0025475","label":"Erythematous macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100727","label":"Histiocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040126","label":"Abnormal vitamin B12 level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032061","label":"Hypereosinophilia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031901","label":"Increased serum mast cell beta-tryptase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031871","label":"Abnormal Langerhans cell morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Excluded (0%)","criteria":null}]}}