{"orpha":158000,"name":"Juvenile xanthogranuloma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JXG"],"definition":"Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158000/","orphanet_url":"https://www.orpha.net/en/disease/detail/158000","names":{"fr":{"name":"Xanthogranulome juvénile","synonyms":["JXG"],"definition":"Type le plus courant d'histiocytose non langerhansienne caractérisé par l'apparition d'une ou plusieurs papules ou nodules rougeâtres ou jaunâtres, bénins et spontanément résolutifs, de quelques millimètres de diamètre, généralement localisés sur la tête et le cou (dans certains cas, également sur les extrémités et le tronc) au cours de la première année de vie (ou rarement à l'âge adulte) et régressant habituellement de manière spontanée. Des cas d'atteinte extracutanée ont été décrits, touchant le plus souvent l'oeil (tractus uvéal) mais aussi d'autres sites, le système nerveux central, les poumons, le foie, les os et les glandes endocrines. La maladie peut être associée à une morbidité importante."},"de":{"name":"Xanthogranulom, juveniles","synonyms":["JXG"]},"es":{"name":"Xantogranuloma juvenil","definition":"Es el tipo más común de histiocitosis de células no-Langerhans caracterizado por la presencia de una o más pápulas o nódulos de varios milímetros de diámetro, rojizos o amarillentos, autolimitados y benignos que, por lo general, se localizan en la cabeza y cuello (aunque en ocasiones en extremidades y tronco) durante el primer año de vida (o excepcionalmente en la edad adulta) y que, por lo habitual, remiten espontáneamente. También se ha descrito la afectación extracutánea, que afecta más comúnmente al ojo (tracto uveal), pero también a otras localizaciones, tales como el sistema nervioso central, pulmones, hígado, huesos y glándulas endocrinas, y que puede estar asociada a una morbilidad considerable."},"it":{"name":"Xantogranuloma giovanile","synonyms":["JXG"],"definition":"Lo xantogranuloma giovanile è la forma più comune di istiocitosi a cellule non-Langerhans (si veda questo termine). È caratterizzato dalla comparsa di una o più papule rossastre o giallastre benigne e autolimitanti oppure noduli con diametro di qualche millimetro, di solito localizzati sulla testa e sul collo (in alcuni casi, anche sulle estremità e sul tronco), nel primo anno di vita (raramente in età adulta), che in genere regrediscono spontaneamente. Sono stati descritti casi con interessamento extracutaneo, in particolare con coinvolgimento dell'occhio (tratto uveale), ma anche del sistema nervoso centrale, dei polmoni, del fegato, delle ossa e delle ghiandole endocrine. La malattia può associarsi ad una significativa morbilità."},"nl":{"name":"Juveniel xanthogranuloom","synonyms":["JXG"],"definition":"Juveniel xanthogranuloom is het meest voorkomende type van niet-Langerhanscelhistiocytose (zie deze term) en wordt gekarakteriseerd door een of meer rode of gelige zelfbeperkende en goedaardige papels of noduli met een diameter van enkele millimeters, die meestal verschijnen op het hoofd en in de hals/nek (maar soms ook op ledematen en romp) tijdens het eerste levensjaar (of in uitzonderlijke gevallen in de volwassenheid) en die doorgaans spontane regressie vertonen. Extracutane betrokkenheid werd ook reeds gerapporteerd, meestal van het oog (uvea-kanaal) maar ook van andere locaties waaronder het centrale zenuwstelsel, de longen, de lever, de botten en endocriene klieren, en kan geassocieerd zijn met aanzienlijke morbiditeit."},"pt":{"name":"Xantogranuloma juvenil","synonyms":["JXG"]},"pl":{"name":"Żółtakoziarniniakowatość młodzieńcza","synonyms":["Żółtakoziarniniak młodzieńczy"]},"cs":{"name":"Juvenilní xantogranulom","synonyms":["JXG"]},"uk":{"name":"Ювенільна ксантогранульома","synonyms":["JXG"],"definition":"Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity."},"zh":{"name":"幼年性黄色肉芽肿","definition":"青少年黄色肉芽肿是最常见的非朗格汉斯细胞组织细胞增生症(见该词条)，其特征是出现一个或多直径几毫米的红色或淡黄色良性自限性丘疹或结节，通常在出生后第一年(很少在成年期)的头颈部出现(但有时出现在四肢和躯干)，通常自发性消退。皮外受累也有报道，眼部(葡萄膜)受累最为常见，但也累及其他部位，且可能伴较高发病率，包括中枢神经系统、肺、肝脏、骨骼和内分泌腺。"},"tr":{"name":"Juvenil ksantogranülom"}},"xrefs":[{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B31.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"98595592"},{"source":"MONDO","code":"0015534","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014972","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043324","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089466","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","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Germany","status":"Validated","source":"22969141[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0225,"area":"Germany","status":"Validated","source":"22969141[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200064","label":"Asymmetry of iris pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011886","label":"Hyphema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001101","label":"Iritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}