{"orpha":687733,"name":"Pulmonary Langerhans cell histiocytosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Single-system pulmonary Langerhans cell histiocytosis","Single-system pulmonary histiocytosis X","PLCH","Single-system Langerhans cell granulomatosis"],"definition":"A form of Langerhans cell histiocytosis characterized by interstitial changes in the lung tissue, manifesting as a variable combination of cellular inflammation, cystic, and fibrotic lesions. Patients can have symptoms like dyspnea, cough and fever but most of them are asymptomatic, and they may undergo spontaneous remission. It is predominantly observed in young smokers or ex-smokers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-687733/","orphanet_url":"https://www.orpha.net/en/disease/detail/687733","names":{"fr":{"name":"Histiocytose langerhansienne pulmonaire","synonyms":["Granulomatose à cellules de Langerhans de type pulmonaire","Histiocytose X pulmonaire","Histiocytose à cellules pulmonaires de Langerhans"],"definition":"Forme d'histiocytose langerhansienne caractérisée par des lésions interstitielles dans le tissu pulmonaire, se manifestant par une association variable de cellules inflammatoires et de lésions kystiques et fibrotiques. Les patients peuvent présenter des symptômes tels qu'une dyspnée, une toux et une fièvre, mais la plupart d'entre eux sont asymptomatiques et peuvent connaître une rémission spontanée. La maladie est principalement observée chez les jeunes fumeurs ou chez les anciens fumeurs."},"de":{"name":"Langerhans-Zell-Histiozytose, pulmonale","synonyms":["Histiozytose X, pulmonale","Langerhans-Zell-Granulomatose, pulmonale","PLCH"]},"es":{"name":"Histiocitosis pulmonar de células de Langerhans","synonyms":["Granulomatosis de células de Langerhans monosistémica","HPCL","Histiocitosis pulmonar X monosistémica","Histiocitosis pulmonar de células de Langerhans monosistémica","PLCH"],"definition":"Es una forma de histiocitosis de células de Langerhans caracterizada por cambios intersticiales en el tejido pulmonar y que se manifiesta como una combinación variable de inflamación celular con lesiones quísticas y fibróticas. Los pacientes pueden presentar síntomas como disnea, tos y fiebre, pero la mayoría son asintomáticos y pueden experimentar remisión espontánea. Se observa predominantemente en fumadores jóvenes o exfumadores."},"it":{"name":"Pulmonary Langerhans cell histiocytosis"},"nl":{"name":"Pulmonale langerhanscelhistiocytose","synonyms":["PLCH","Unisystemische pulmonale histiocytose X","Unisystemische pulmonale langerhanscelgranulomatose","Unisystemische pulmonale langerhanscelhistiocytose"],"definition":"Een vorm van Langerhanscelhistiocytose, gekenmerkt door interstitiële veranderingen in longweefsel, met een variabele combinatie van cellulaire inflammatie en cystische en fibrotische laesies als manifestatie. Patiënten kunnen symptomen vertonen, zoals dyspneu, hoest en koorts, maar de meesten zijn asymptomatisch, en ze kunnen spontane remissie ondergaan. Het wordt vooral waargenomen bij jonge rokers of voormalige rokers."},"pt":{"name":"Histiocitose pulmonar de células Langerhans","synonyms":["Granulomatose de células Langerhans unissistémica","Histiocitose X pulmonar unissistémica","Histiocitose pulmonar de células Langerhans unissistémica","PLCH"]},"pl":{"name":"Płucna histiocytoza z komórek Langerhansa","synonyms":["Single-system pulmonary Langerhans cell histiocytosis","Single-system pulmonary histiocytosis X","PLCH","Single-system Langerhans cell granulomatosis"],"definition":"Postać histiocytozy z komórek Langerhansa, charakteryzująca się zmianami śródmiąższowymi w tkance płucnej i objawiająca połączeniem stanu zapalnego, zmian torbielowatych oraz włóknienia. Pacjenci mogą mieć duszność, kaszel i gorączkę, jednak większość pozostaje bezobjawowa i choroba może ulec samoistnej remisji. Występuje głównie u młodych palaczy lub byłych palaczy."},"cs":{"name":"Plicní histiocytóza z Langerhansových buněk","synonyms":["Single-system pulmonary Langerhans cell histiocytosis","Single-system pulmonary histiocytosis X","PLCH","Single-system Langerhans cell granulomatosis"]}},"xrefs":[{"source":"ICD-10","code":"C96.5","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":389,"name":"Langerhans cell histiocytosis","classifications":[184,194,196,202,233]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22996177[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}