{"orpha":464321,"name":"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cutaneovisceral angiomatosis-thrombocytopenia syndrome","MLT","Multifocal lymphangioendotheliomatosis with thrombocytopenia"],"definition":"A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464321/","orphanet_url":"https://www.orpha.net/en/disease/detail/464321","names":{"fr":{"name":"Syndrome de lymphangioendothéliomatose multifocale-thrombocytopénie","synonyms":["Lymphangioendothéliomatose multifocale avec thrombocytopénie"],"definition":"Anomalie du système lymphatique rare caractérisée par des lésions vasculaires multifocales progressives et congénitales de la peau, du tractus gastro-intestinal et, plus rarement, d'autres régions anatomiques, entraînant une coagulopathie avec thrombocytopénie pouvant engager le pronostic vital. Sur le plan macroscopique, les lésions ressemblent à des plaques de forme ronde à ovale et de couleur rouge à brune, larges de quelques centimètres de diamètre. L'examen histopathologique révèle des lésions à type de vaisseaux dilatés à paroi mince, parfois accompagnées d'une hyperplasie endothéliale, exprimant les marqueurs spécifiques des cellules endothéliales lymphatiques et ressemblant à un hémangioendothéliome bénin."},"de":{"name":"Multifokale Lymphangioendotheliomatose-Thrombozytopenie-Syndrom","synonyms":["MLT","Viszerokutane Angiomatose-Thrombozytopenie-Syndrom"],"definition":"Eine seltene Anomalie des Lymphsystems, die durch multifokale angeborene und fortschreitende vaskuläre Läsionen der Haut, des Gastrointestinaltrakts und gelegentlich anderer anatomischer Stellen gekennzeichnet ist und eine potenziell lebensbedrohliche thrombozytopenische Koagulopathie verursacht. Makroskopisch erscheinen die Läsionen als runde bis ovale, rot-braune Plaques mit einem Durchmesser von bis zu einigen Zentimetern. Histopathologisch bestehen sie aus dilatierten, dünnwandigen Gefäßen mit variabler endothelialer Hyperplasie, die positiv für lymphatische Endothelzellmarker sind und einem benignen Lymphangioendotheliom ähneln."},"es":{"name":"Síndrome de linfangioendoteliomatosis multifocal-trombocitopenia","synonyms":["Linfangioendoteliomatosis multifocal con trombocitopenia","MLT","Síndrome de angiomatosis cutáneo-visceral-trombocitopenia"],"definition":"Es una anomalía poco frecuente del sistema linfático caracterizada por lesiones vasculares multifocales congénitas y progresivas de la piel, del tracto digestivo y, en ocasiones, de otras áreas anatómicas, provocando una coagulopatía trombocitopénica potencialmente mortal. Macroscópicamente, las lesiones se presentan como placas redondas u ovaladas de color marrón rojizo, de unos pocos centímetros de diámetro. Histopatológicamente, consisten en vasos de paredes delgadas, dilatados, con hiperplasia endotelial variable, positivos para marcadores de células endoteliales linfáticas y semejantes al linfangioendotelioma benigno."},"it":{"name":"Sindrome linfangioendoteliomatosi multifocale - trombocitopenia","definition":"Si tratta di un'anomalia rara del sistema linfatico, caratterizzata da lesioni vascolari congenite multifocali progressive localizzate sulla cute, nel tratto gastrointestinale e, occasionalmente, in altre aree, che causano una coagulopatia trombocitopenica potenzialmente letale. Dal punto di vista macroscopico, le lesioni hanno la forma di placche rotonde o ovali, di colore rosso-marrone, con un diametro di alcuni centimetri. Dal punto di vista istopatologico, sono costituite da vasi dilatati, con pareti sottili e iperplasia variabile dell'endotelio, positivi per i marcatori delle cellule endoteliali linfatiche, e simili a un linfangioendotelioma benigno."},"nl":{"name":"Multifocale lymfangio-endotheliomatose - trombocytopenie-syndroom","synonyms":["Cutaneoviscerale angiomatose - trombocytopenie-syndroom","MLT","Multifocale lymfangio-endotheliomatose met trombocytopenie"],"definition":"Een zeldzame anomalie van lymfatisch systeem, gekarakteriseerd door multifocale, congenitale en progressieve vasculaire laesies van huid, maag-darmstelsel, en soms andere anatomische lichaamsstructuren, die potentieel levensbedreigende trombocytopenische coagulopathie veroorzaken. Macroscopisch lijken de laesies op ronde tot ovale, rood-bruine plaques met een diameter van enkele centimeters. Histopathologisch bestaan ze uit gedilateerde, dunwandige bloedvaten met variabele endotheliale hyperplasie, zijn ze positief voor merkers van lymfatische endotheelcellen, en lijken ze op goedaardig lymfangio-endothelioom."},"pt":{"name":"Síndrome de linfagioendoteliomatose multifocal-trombocitopénia"},"pl":{"name":"Zespół limfangioendoteliomatozy wieloogniskowej i małopłytkowości","synonyms":["Limfangioendoteliomatoza wieloogniskowa z małopłytkowością","MLT","Zespół naczyniakowatości trzewno-skórnej i małopłytkowości"]},"cs":{"name":"Syndrom multifokální lymfangioendoteliomatózy a trombocytopenie","synonyms":["MLT","Cutaneovisceral angiomatosis-thrombocytopenia syndrome","Multifocal lymphangioendotheliomatosis with thrombocytopenia","Syndrom kutánněviscerální angiomatózy a trombocytopenie","Multifokální lymfangioendoteliomatóza s trombocytopenií"]},"uk":{"name":"Синдром мультифокального лімфангіоендотеліоматозу-тромбоцитопенії","synonyms":["Синдром кутанно-вісцерального ангіоматозу-тромбоцитопенії","MLT","Мультифокальний лімфангіоендотеліоматоз з тромбоцитопенією"],"definition":"A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma."},"zh":{"name":"多灶性淋巴管内皮细胞增生症-血小板减少症","synonyms":["多灶性淋巴管内皮细胞增生症-血小板减少症"]},"tr":{"name":"Multifokal lenfanjiyoendotelyomatoz-trombositopeni sendromu","synonyms":["MLT","Kutaneoviskeral anjiyomatoz-trombositopeni sendromu","Trombositopeni ile seyreden multifokal lenfanjiyoendotelyomatoz"]}},"xrefs":[{"source":"ICD-10","code":"D18.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575322","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10467","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":673473,"name":"Borderline vascular tumor","classifications":[147,198,202]},{"orpha":248347,"name":"Rare hemorrhagic disorder due to an acquired platelet anomaly","classifications":[194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26148948[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-27","source":"33641614[PMID]","terms":[{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025015","label":"Abnormal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000759","label":"Abnormal peripheral nervous system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011035","label":"Abnormal renal cortex morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002248","label":"Hematemesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009139","label":"Osteolysis involving bones of the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045039","label":"Osteolysis involving bones of the upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003304","label":"Spondylolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031938","label":"Abnormal conus terminalis morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025085","label":"Bloody diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025420","label":"Diffuse alveolar hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040242","label":"Muscle hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025064","label":"Thalamic hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007902","label":"Vitreous hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}