{"orpha":158003,"name":"Xanthoma disseminatum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Montgomery syndrome"],"definition":"A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158003/","orphanet_url":"https://www.orpha.net/en/disease/detail/158003","names":{"fr":{"name":"Xanthome disséminé","synonyms":["Syndrome de Montgomery"],"definition":"Maladie systémique rare caractérisée par des xanthomes normolipidiques avec implication de la peau et des muqueuses, associés à une prolifération d'histiocytes et un dépôt secondaire de lipides dans le derme. Sur le plan clinique, on observe de multiples lésions papulonodulaires, regroupées, coalescentes, de couleur rouge jaunâtre à brun, affectant la peau et les muqueuses. Les organes internes, en particulier l'hypophyse et/ou l'hypothalamus, sont moins souvent touchés. Les patients présentent des lésions cutanéomuqueuses caractéristiques, un diabète insipide, une dysphagie, une dyspnée, une raucité de la voix et une vision floue."},"de":{"name":"Xanthoma disseminatum","synonyms":["Montgomery-Syndrom"],"definition":"Eine seltene, systemische Erkrankung, die durch eine normolipidämische mukokutane Xanthomatose mit histiozytärer Zellproliferation und sekundärer Ablagerung von Lipiden in der Dermis gekennzeichnet ist. Klinisch zeigen sich multiple, gruppierte, koaleszierende, gelblich rote bis braune papulonoduläre Läsionen in der Haut und den Schleimhäuten. Seltener sind innere Organe betroffen, insbesondere die Hypophyse und/oder der Hypothalamus. Die Patienten weisen charakteristische Schleimhautläsionen, Diabetes insipidus, Dysphagie, Dyspnoe, Heiserkeit und verschwommenes Sehen auf."},"es":{"name":"Xantoma diseminado","synonyms":["Síndrome de Montgomery"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por xantomatosis mucocutánea normolipidémica con proliferación de células histiocíticas y deposición lipídica secundarias en la dermis. Clínicamente se presenta con múltiples lesiones papulonodulares agrupadas, coalescentes, de color rojo-amarillento a marrón localizadas en la piel y en las membranas mucosas. Menos frecuentemente se produce afectación de los órganos internos, en particular de la hipófisis y/o el hipotálamo. Los pacientes presentan lesiones mucocutáneas características, diabetes insípida, disfagia, disnea, voz ronca y visión borrosa."},"it":{"name":"Xantoma disseminato","synonyms":["Sindrome di Montgomery"],"definition":"È una malattia sistemica rara, caratterizzata da xantomatosi mucocutanea normolipidemica, associata alla proliferazione di istiociti e a depositi secondari di lipidi nel derma. Dal punto di vista clinico, è caratterizzata da lesioni multiple, raggruppate e confluenti, di colore giallastro-rosso-bruno, localizzate sulla cute e sulle mucose. Raramente interessa gli organi interni, in particolare l'ipofisi e l'ipotalamo. I pazienti presentano caratteristiche lesioni mucocutanee, diabete insipido, disfagia, dispnea, raucedine e annebbiamento della vista."},"nl":{"name":"Xanthoma disseminatum","synonyms":["Syndroom van Montgomery"],"definition":"Een zeldzame, systemische ziekte gekarakteriseerd door normolipidemische mucocutane xanthomatose met proliferatie van histiocytaire cellen en secundaire afzetting van lipiden in de dermis. Klinisch is er aanwezigheid van multipele, gegroepeerde, samengevloeide, gelig rode tot bruine papulonodulaire laesies in de huid en de slijmvliezen. Minder vaak worden de inwendige organen aangetast, vooral de hypofyse en/of de hypothalamus. Patiënten vertonen kenmerkende mucocutane letsels, diabetes insipidus, dysfagie, dyspneu, heesheid van de stem, en troebel zicht."},"pt":{"name":"Xantoma disseminado"},"pl":{"name":"Rozsiana postać żółtakoziarniniakowatości","synonyms":["Zespół Montgomery'ego"]},"cs":{"name":"Diseminovaný xantom","synonyms":["Montgomeryho syndrom"]},"uk":{"name":"Ксантома поширена","synonyms":["Синдром Монтгомері"],"definition":"A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision."},"zh":{"name":"播散性黄瘤","synonyms":["Montgomery综合征"],"definition":"一种罕见的全身性疾病，其特征是血脂正常的皮肤粘膜黄瘤病，伴组织细胞增生和真皮中脂质继发性沉积。临床上，皮肤和粘膜出现多发性、成组、粘连、黄红色至棕色丘疹结节病变。内脏较少受累，尤其是垂体和/或下丘脑。患者出现特征性皮肤粘膜病变、尿崩症、吞咽困难、呼吸困难、声音嘶哑和视力模糊。"},"tr":{"name":"Ksantoma disseminatum","synonyms":["Montgomery sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE81","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1785140754"},{"source":"MONDO","code":"0015535","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043322","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13186","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052575","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:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000159","label":"Abnormal lip morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Occasional (29-5%)","criteria":null}]}}