{"orpha":464329,"name":"Kaposiform lymphangiomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464329/","orphanet_url":"https://www.orpha.net/en/disease/detail/464329","names":{"fr":{"name":"Lymphangiomatose kaposiforme","definition":"Anomalie vasculaire ou angiome rare caractérisé par une malformation multifocale des vaisseaux lymphatiques bordés par des amas ou des couches de cellules endothéliales lymphatiques fusiformes avec une prédilection pour la cavité thoracique, bien que des atteintes extra-thoraciques, notamment des os et de la rate, soient possibles. Les signes cliniques et les symptômes caractéristiques sont : épanchements péricardiques et pleuraux, toux, dyspnée, saignements et fractures dues à l'atteinte osseuse. Le pronostic est généralement défavorable en raison de la nature progressive de la maladie."},"de":{"name":"Kaposiforme Lymphangiomatose","definition":"Eine seltene vaskuläre Anomalie oder ein Angiom, das durch multifokale fehlgebildete Lymphkanäle gekennzeichnet ist, die von Clustern oder Blättern spindelförmiger lymphatischer Endothelzellen ausgekleidet sind. Die kaposiforme Lymphangiomatose tritt bevorzugt in der Brusthöhle auf, kann aber auch extrathorakale Bereiche, insbesondere Knochen und Milz, betreffen. Typische klinische Anzeichen und Symptome sind Perikard- und Pleuraergüsse, Husten, Dyspnoe, Blutungen und Frakturen infolge der Knochenbeteiligung. Die Prognose ist aufgrund des progressiven Charakters der Erkrankung im Allgemeinen schlecht."},"es":{"name":"Linfangiomatosis kaposiforme","definition":"Es una anomalía vascular o angioma poco frecuente caracterizada por unos canales linfáticos malformados multifocales revestidos por grupos o láminas de células endoteliales linfáticas fusiformes con predilección por la cavidad torácica, pero que también afecta a localizaciones extratorácicas, especialmente los huesos y el bazo. Los signos y síntomas clínicos típicos son derrames pericárdicos y pleurales, tos, disnea, hemorragias y fracturas secundarias a la afectación ósea. Por lo general, el pronóstico es desfavorable debido a la naturaleza progresiva del trastorno."},"it":{"name":"Linfangiomatosi kaposiforme","definition":"Si tratta di un'anomalia vascolare o di un angioma raro, caratterizzato da una malformazione multifocale dei vasi linfatici, rivestiti da gruppi o strati di cellule endoteliali linfatiche fusiformi, che interessa per lo più la cavità toracica, ma che può localizzarsi anche al di fuori del torace, in particolare a livello delle ossa e della milza. I segni clinici caratteristici comprendono il versamento pericardico e pleurico, la tosse, la dispnea, le emorragie e le fratture secondarie all'interessamento osseo. Trattandosi di una malattia progressiva, di solito la prognosi è sfavorevole."},"nl":{"name":"Kaposiforme lymfangiomatose","definition":"Een zeldzame vasculaire anomalie of angioom, gekarakteriseerd door multifocale misvorming van lymfevaten omzoomd door clusters of lagen van spoelvormige lymfatische endotheelcellen, vooral in thoraxholte, maar ook op extrathoracale locaties, vooral bot en milt. Typische klinische tekenen en symptomen zijn pericardiale en pleurale effusie, hoest, dyspneu, bloeding, en fracturen secundair aan betrokkenheid van bot. De prognose is doorgaans slecht vanwege de progressieve aard van de aandoening."},"pt":{"name":"Linfangiomatose kaposiforme"},"pl":{"name":"Limfangiomatoza typu mięsaka Kaposiego"},"cs":{"name":"Kaposiformní lymfangiomatóza"},"uk":{"name":"Капозиформний лімфангіоматоз","definition":"A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition."},"zh":{"name":"卡波西氏淋巴管瘤病","definition":"一种罕见的血管异常或血管瘤，其特征是多灶性畸形淋巴管，内部排列成簇或成片的梭形淋巴内皮细胞，多见于胸腔，但也可累及胸外部位，尤其是骨骼和脾脏。典型的临床症状和体征为心包和胸腔积液、咳嗽、呼吸困难、出血、继发于骨骼受累的骨折。由于病情的进展性，预后通常很差。"},"tr":{"name":"Kaposiform lenfanjiomatoz"}},"xrefs":[{"source":"ICD-10","code":"D18.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2E81.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1139222402"},{"source":"MONDO","code":"0018736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681097","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":719950,"name":"Complex lymphatic anomaly","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27053281[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-24","source":"28398067[PMID]_27053281[PMID]_24252784[PMID]","terms":[{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100766","label":"Abnormal lymphatic vessel morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025408","label":"Abnormal spleen morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003174","label":"Abnormality of the ischium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000782","label":"Abnormality of the scapula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100711","label":"Abnormality of the thoracic spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100310","label":"Epidural hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003084","label":"Fractures of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100608","label":"Metrorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011896","label":"Subconjunctival hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002693","label":"Abnormality of the skull base","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Very rare (<4-1%)","criteria":null}]}}