{"orpha":158014,"name":"Rosaï-Dorfman disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sinus histiocytosis with massive lymphadenopathy","Destombes-Rosaï-Dorfman disease","Rosaï-Dorfman-Destombes disease","SHML"],"definition":"A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158014/","orphanet_url":"https://www.orpha.net/en/disease/detail/158014","names":{"fr":{"name":"Maladie de Rosaï-Dorfman","synonyms":["HSLM","Histiocytose sinusale avec lymphadénopathie massive","Maladie de Destombes-Rosaï-Dorfman","Maladie de Rosaï-Dorfman-Destombes","SHML"],"definition":"Histiocytose non langerhansienne rare caractérisée par une infiltration des ganglions lymphatiques ou des tissus extranodaux par des histiocytes non malins avec empéripolèse (mécanisme de phagocytose non destructive des lymphocytes ou des érythrocytes). La présentation la plus classique prend la forme d'une lymphadénopathie cervicale massive chez l'adolescent et le jeune adulte. Les sites d'atteinte extranodale les plus fréquents sont la peau, les tissus mous, les os, les sinus paranasaux, les orbites, les glandes salivaires et le système nerveux central. Les symptômes sont liés à un effet de masse dans les organes touchés."},"de":{"name":"Rosaï-Dorfman-Krankheit","synonyms":["Destombes-Rosaï-Dorfman-Krankheit","Rosaï-Dorfman-Destombes-Krankheit","SHML","Sinushistiozytose mit massiver Lymphadenopathie"],"definition":"Eine seltene Non-Langerhans-Zell-Histiozytose, die durch Infiltration von Lymphknoten oder extranodalem Gewebe durch nichtmaligne Histiozyten gekennzeichnet ist, die mit einer Emperipolese (hier eine nicht-destruktive Phagozytose von Lymphozyten oder Erythrozyten) einhergehen. Das typische Erscheinungsbild ist eine massive zervikale Lymphadenopathie bei Jugendlichen und jungen Erwachsenen. Die häufigsten extranodalen Lokalisationen sind Haut, Weichteile, Knochen, Nasennebenhöhlen, Augenhöhlen, Speicheldrüsen und das zentrale Nervensystem. Die Symptome stehen im Zusammenhang mit der Gewebeverdichtung in den betroffenen Organen."},"es":{"name":"Enfermedad de Rosaï-Dorfman","synonyms":["Enfermedad de Destombes-Rosaï-Dorfman","Enfermedad de Rosaï-Dorfman-Destombes","Histiocitosis sinusal con linfadenopatía masiva","SHML"],"definition":"Es una histiocitosis poco frecuente de células no-Langerhans caracterizada por la infiltración de los ganglios linfáticos o tejidos extraganglionares por histiocitos no malignos que muestran emperipolesis, una forma de fagocitosis no destructiva de linfocitos o eritrocitos. La presentación más típica es como una linfadenopatía cervical masiva en adolescentes y adultos jóvenes. Los sitios extraganglionares de afectación son piel, partes blandas, hueso, senos paranasales, órbita, glándulas salivales y sistema nervioso central. Los síntomas están relacionados con el efecto masa en los órganos afectados."},"it":{"name":"Malattia di Rosaï-Dorfman","synonyms":["Istiocitosi sinusale con linfoadenopatia massiva","Malattia di Destombes-Rosaï-Dorfman","Malattia di Rosaï-Dorfman-Destombes","SHML"],"definition":"Si tratta di un'istiocitosi rara a cellule non-Langerhans, caratterizzata dall'infiltrazione dei linfonodi o dei tessuti extranodali da parte di istiociti non maligni con emperipolesi, una fagocitosi non distruttiva dei linfociti o degli eritrociti. Di solito la malattia esordisce nell'adolescenza o nella prima età adulta sotto forma di linfoadenopatia cervicale massiva. Le localizzazioni extranodali più comuni sono la cute, i tessuti molli, le ossa, i seni paranasali, le orbite, le ghiandole salivari e il sistema nervoso centrale. I sintomi dipendono dall'effetto della massa sugli organi interessati."},"nl":{"name":"Ziekte van Rosaï-Dorfman","synonyms":["SHML","Sinushistiocytose met massieve lymfadenopathie","Ziekte van Destombes-Rosaï-Dorfman","Ziekte van Rosaï-Dorfman-Destombes"],"definition":"Een zeldzame niet-Langerhanscel histiocytose, gekarakteriseerd door infiltratie van lymfeklieren of extranodale weefsels door niet-maligne histiocyten die emperipolese vertonen, een niet-destructieve fagocytose van lymfocyten of erytrocyten. De meest typische presentatie is massale cervicale lymfadenopathie bij adolescenten en jonge volwassenen. De meest frequente plaatsen van extranodale ziekte zijn huid, weke delen, bot, paranasale sinussen, oogkas, speekselklieren, en centrale zenuwstelsel. Symptomen zijn gerelateerd aan massa-effect in aangetaste organen."},"pt":{"name":"Histiocitose sinusal com linfadenopatia maciça"},"pl":{"name":"Choroba Rosaï i Dorfmana","synonyms":["Choroba Destombesa, Rosaï i Dorfmana","choroba Rosaï, Dorfmana i Destombesa","Histiocytoza zatokowa z masywną limfadenopatią","SHML"]},"cs":{"name":"Rosaïova-Dorfmanova choroba","synonyms":["Destombova-Rosaïova-Dorfmanova choroba","Rosaïova-Dorfmanova-Destombova choroba","SHML","Sinusová histiocytóza s masivní lymfadenopatií","Rosaï-Dorfmanova choroba","Destombes-Rosaï-Dorfmanova choroba","Rosaï-Dorfman-Destombova choroba"]},"uk":{"name":"Хвороба Розаї-Дорфмана","synonyms":["Хвороба Дестомба-Розаї-Дорфмана","Хвороба Розаї-Дорфмана-Дестомба","SHML","Синусний гістіоцитоз з масивною лімфаденопатією"],"definition":"A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs."},"zh":{"name":"Rosa´-Dorfman 疾病","synonyms":["窦组织细胞增生症伴大量淋巴结病变"],"definition":"Rosa‘-Dorfman病是一种罕见的良性非朗格汉斯细胞组织细胞增生症，其特征是主要位于颈部的淋巴结出现无痛性组织细胞大肿块。也可以观察到结外受累，如皮肤、呼吸道、骨骼、泌尿生殖系统、软组织、口腔和中枢神经系统。其他表现可能包括发烧、全身乏力、鼻出血、盗汗、体重减轻、白细胞增多、血沉升高和高丙种球蛋白血症。"},"tr":{"name":"Rosa´-Dorfman hastalığı","synonyms":["SHML","Destombes-Rosaï-Dorfman hastalığı","Rosaï-Dorfman-Destombes hastalığı","Masif lenfadenopatili sinüs histiyositozu"]}},"xrefs":[{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EK92","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1908538383"},{"source":"MONDO","code":"0006412","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848165","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7588","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063397","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":157987,"name":"Non-Langerhans cell histiocytosis","classifications":[187,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1000.0,"area":"Worldwide","status":"Validated","source":"21816647[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002961","label":"Dysgammaglobulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null}]}}