{"orpha":158025,"name":"Hereditary progressive mucinous histiocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158025/","orphanet_url":"https://www.orpha.net/en/disease/detail/158025","names":{"fr":{"name":"Histiocytose progressive mucineuse héréditaire","definition":"Une histiocytose non langerhansienne rare et bénigne caractérisée par l'apparition pendant l'enfance ou l'adolescence de multiples petites papules asymptomatiques, lentement progressives, de couleur chair à rouge brun, affectant surtout sur le visage, le dos des mains, des bras et des jambes, sans atteinte muqueuse ou viscérale associée. Sur le plan histologique, les papules sont des agrégats nodulaires d'histiocytes bien circonscrits, non encapsulés, associés à une mucine abondante dans le derme supérieur et moyen."},"de":{"name":"Histiozytose, progressive, muzinöse, hereditäre"},"es":{"name":"Histiocitosis progresiva mucinosa hereditaria","definition":"Es una histiocitosis de células no Langerhans, benigna y poco frecuente, caracterizada por el inicio en la infancia o la adolescencia de múltiples pápulas de color piel a marrón-rojizo, pequeñas, asintomáticas, de progresión lenta, con predilección por el rostro, dorso de las manos, antebrazos y piernas, sin afectación mucosa o visceral. Histológicamente, las pápulas son agregados nodulares de histiocitos bien circunscritos, no encapsulados, con abundante mucina en la dermis superior y media."},"it":{"name":"Istiocitosi mucinosa ereditaria progressiva","definition":"L'istiocitosi mucinosa ereditaria progressiva è un'istiocitosi rara benigna a cellule non-Langerhans, che esordisce nell'infanzia o nell'adolescenza con papule multiple, di piccole dimensioni, asintomatiche, a progressione lenta, dello stesso colore della cute oppure rosse-marroni, che prediligono il viso, il dorso delle mani, gli avambracci e le gambe, senza interessare le mucose o i visceri. Dal punto di vista istologico, le papule consistono di aggregati nodulari ben delimitati, non incapsulati di istiociti con abbondante mucina negli strati superiore e medio del derma."},"nl":{"name":"Hereditaire progressieve mucineuze histiocytose","definition":"Erfelijke progressieve mucineuze histiocytose is een zeldzame, goedaardige, niet-Langerhanscel histiocytose die gekarakteriseerd wordt door aanvang in de kindertijd of adolescentie van meervoudige, kleine, asymptomatische, traag evoluerende, huidkleurige tot rood-bruine papels met een voorkeur voor het gelaat, dorsale zijde van de handen, onderarmen en benen, zonder geassocieerde mucosale of viscerale betrokkenheid. Histologisch zijn de papels goed begrensde, niet ingekapselde, nodulaire aggregaten van histiocyten zonder overvloedige mucine in de opper- en middendermis."},"pt":{"name":"Histiocitose progressiva mucinosa hereditária"},"pl":{"name":"Dziedziczna postępująca histiocytoza śluzowa","definition":"*Dziedziczna postępująca histiocytoza śluzowa jest rzadką, łagodną histiocytozą, która dotyczy komórek innych niż komórki Langerhansa, o początku w dzieciństwie lub okresie dojrzewania. Charakteryzuje się występowaniem licznych małych, bezobjawowych, powoli rosnących grudek w kolorze skóry lub o barwie czerwono-brązowej, które najczęściej pokrywają twarz, grzbietowe powierzchnie dłoni, przedramiona i nogi, nie zajmując błon śluzowych i narządów wewnętrznych. Histologicznie grudki są dobrze odgraniczonymi, nieotorbionymi, guzkowymi skupiskami histiocytów z dużą zawartością mucyny w górnej i środkowej warstwie skóry właściwej."},"cs":{"name":"Hereditární progresivní mucinózní histiocytóza"},"uk":{"name":"Спадковий прогресуючий муцинозний гістіоцитоз","definition":"Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis."},"zh":{"name":"遗传性进行性粘液组织细胞增多症","definition":"遗传性进行性粘蛋白性组织细胞增生症是一种罕见的良性非朗格汉斯细胞组织细胞增生症，其特征是儿童或青少年起病的多发性、小、无症状、进展缓慢的肤色或红褐色丘疹，好发于面部、手背、前臂和腿部，无粘膜或内脏受累。组织学上，丘疹为边界清晰、无包膜、结节状的组织细胞聚集体，且在上层和中层真皮中富含粘蛋白。"},"tr":{"name":"Kalıtsal ilerleyici müsinöz histiyositoz"}},"xrefs":[{"source":"OMIM","code":"142630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"284196883"},{"source":"MONDO","code":"0007725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749819","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":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"28556021[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28556021[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-15","source":"3401026[PMID]_7944513[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:0040138","label":"Mucinous histiocytosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","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}]}}