Anomalia linfática generalizada caracterizada por células endoteliais linfáticas fusiformes kaposiformes.
Introdução
O que você precisa saber de cara
Anomalia linfática generalizada caracterizada por células endoteliais linfáticas fusiformes kaposiformes.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 46 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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🇧🇷 Atendimento SUS — Linfangiomatose kaposiforme
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Outros ensaios clínicos
4 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
MEK Inhibition Reduces Vascular Malformations and Gene Dysregulation in NRASQ61R Human Endothelial Cells.
An activating NRAS p.Q61R (NRASQ61R) somatic mutation occurs in the lesions of patients with kaposiform lymphangiomatosis (KLA). Therapies for KLA patients are limited and since the mitogen-activated protein kinase pathway is hyperactivated by NRASQ61R, we evaluated the potency of Mitogen-activated protein kinase kinase (MEK) inhibitors (trametinib, selumetinib, and cobimetinib) on human NRASQ61R endothelial cells (ECs). RNA sequencing analysis was performed to identify dysregulated genes and those restored by trametinib. Trametinib was tested in a mouse xenograft model of NRASQ61R ECs. Doxycycline (Dox)-inducible NRASQ61R ECs were treated with trametinib, selumetinib, cobimetinib, or vehicle (control). Cell signaling pathways, proliferation, migration, morphology, and angiopoietin-2 (ANG-2) levels were assessed. RNA-sequencing analysis was performed on Dox-induced NRAS wild-type (NRASWT), NRASQ61R, and trametinib-treated NRASQ61R ECs. Selected proteins were verified by immunoblotting. NRASQ61R ECs were injected into nude mice on Dox-containing diet to generate xenografts and treated with trametinib or vehicle. Trametinib reduced NRASQ61R-activated ERK phosphorylation, cell proliferation, migration, spindling, and ANG-2 at lower doses than selumetinib or cobimetinib. RNA-sequencing detected 1315 upregulated and 1773 downregulated genes in NRASQ61R ECs compared with NRASWT. Trametinib corrected 19% upregulated and 8% downregulated genes, including elevated Notch ligands (DLL4, JAG1), activated Notch 1, and HES1. Trametinib reduced NRASQ61R ECs xenograft weights by 46%, vascular area by 63%, and phosphorylated ERK staining. Trametinib was the most effective MEK inhibitor, correcting some dysregulated genes in NRASQ61R ECs, including some in the Notch pathway. Trametinib reduced vessel overgrowth in xenografts of NRASQ61R ECs. These studies support using trametinib treatment for KLA patients with an NRASQ61R mutation.
Efficacy and Safety of Trametinib Therapy for Complex Lymphatic Malformations.
This study evaluated trametinib in five pediatric patients (median age 9 years) with complex lymphatic malformations, such as kaposiform lymphangiomatosis (KLA) and generalized lymphatic anomaly (GLA). All showed significant clinical improvement: coagulopathy resolved (platelet increase 54%-362%, D-dimer decrease > 91%), 80% achieved partial response radiographically, and toxicity was minimal (one Grade 2 rash). NRAS proto-oncogene mutations were detected in 80% of cases, but clinical benefit occurred without mutation. Trametinib is an effective, safe, first-line therapy for KLA/GLA.
Pregnancy Complicated by 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency and Kaposiform Lymphangiomatosis.
To describe pregnancy complicated by deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase, an inborn error of metabolism, and kaposiform lymphangiomatosis (KLA), a lymphatic anomaly with poor prognosis. A 24-year-old woman with known HMG-CoA lyase deficiency and KLA presented at 6 weeks of gestation with severe vomiting and dehydration. Her pregnancy was complicated by worsening lung disease, fetal growth restriction, anemia, thrombocytopenia, and gestational diabetes. She required parenteral nutrition and adjustments in immunosuppressive therapy. At 37 weeks, she underwent induction of labor and delivered a male infant weighing 2,790 g with reassuring Apgar scores. This case demonstrates that, with multidisciplinary management, patients with coexisting rare disorders can achieve successful pregnancy outcomes despite substantial maternal and fetal risks.
Case Report: Life-threatening Kasabach-Merritt phenomenon in a 2-month-old child.
We present a rare case of a 2-month-old girl, born at term, who was admitted to the pediatric intensive care unit for fussiness, increasing abdominal distension, and intermittent diarrhea for one week. She was found to be hypertensive, coagulopathic, and suffering from unrelenting ascites. Over the course of the following month, her symptoms became life-threatening, and she was intubated, sedated, and paralyzed. She underwent multiple diagnostic and therapeutic procedures, including exploratory laparotomy, MRI, colonoscopy, and multiple peritoneal drains. After several weeks, the medical teams reached a consensus diagnosis of a rare and complex vascular anomaly characterized by a life-threatening Kasabach-Merritt Phenomenon (KMP). KMP is known to occur in association with several anomalies, including kaposiform hemangioendothelioma and kaposiform lymphangiomatosis. Life-saving therapies were initiated, including methylprednisolone and sirolimus. The patient was ultimately discharged and sent home with her parents. To our knowledge, this is the only reported case describing this constellation of symptoms in a critically ill infant. Multidisciplinary cooperation was key in saving the patient's life. Critical care providers should consider vascular anomalies in patients with similar presentations.
Human Lymphatic Endothelial Cells Expressing NRASQ61R Model Characteristics of Kaposiform Lymphangiomatosis.
Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly characterized by lymphatic overgrowth and dysfunction. The goal of this study was to determine how the NRASQ61R variant found in the tissue of KLA patients impacts key characteristics of lymphatic endothelial cells (LEC). LEC expressing NRASQ61R had a spindled morphology, increased migration, increased proliferation, increased MAPK signaling, and elevated angiopoietin-2 production. In an in vitro lymphangiogenesis model, LEC expressing NRASQ61R showed increased sprouting and formed enlarged and disorganized vascular structures. This model of LEC expressing NRASQ61R can be used to give insights into KLA pathogenesis and test new treatments.
Publicações recentes
NRAS(Q61R) Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis.
Trametinib normalizes angiopoietin-2 levels and successfully treats kaposiform lymphangiomatosis.
Pregnancy Complicated by 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency and Kaposiform Lymphangiomatosis.
MEK Inhibition Reduces Vascular Malformations and Gene Dysregulation in NRAS(Q61R) Human Endothelial Cells.
Complex Lymphatic Anomalies: A Comprehensive Review of Imaging Features and Diagnostic Considerations.
📚 EuropePMC55 artigos no totalmostrando 81
Trametinib normalizes angiopoietin-2 levels and successfully treats kaposiform lymphangiomatosis.
Journal of vascular anomaliesPregnancy Complicated by 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency and Kaposiform Lymphangiomatosis.
O&G openMEK Inhibition Reduces Vascular Malformations and Gene Dysregulation in NRASQ61R Human Endothelial Cells.
Pediatric blood & cancerComplex Lymphatic Anomalies: A Comprehensive Review of Imaging Features and Diagnostic Considerations.
Seminars in roentgenologyCase 343: Kaposiform Lymphangiomatosis.
RadiologyCase Report: Life-threatening Kasabach-Merritt phenomenon in a 2-month-old child.
Frontiers in pediatricsEfficacy and Safety of Trametinib Therapy for Complex Lymphatic Malformations.
Pediatric blood & cancerCase Report: 3 cases of abdominal lesions with lower limb lymphedema-rare mutations in complex lymphatic anomalies.
Frontiers in oncologyHuman Lymphatic Endothelial Cells Expressing NRASQ61R Model Characteristics of Kaposiform Lymphangiomatosis.
Pediatric blood & cancerA high-throughput zebrafish screen identifies novel candidate treatments for kaposiform lymphangiomatosis (KLA).
The Journal of experimental medicineLymphatic Malformation: Classification, Pathogenesis, and Therapeutic Strategies.
Annals of vascular surgeryLymphatic malformations involving the thorax in children: a retrospective cohort study.
BMC pulmonary medicinePerioperative Considerations for a Patient with Juvenile Idiopathic Scoliosis and Kaposiform Lymphangiomatosis Undergoing Spinal Fusion: A Case Report.
Journal of orthopaedic case reportsComplex lymphatic anomalies.
Pediatric radiologyPrimary splenic involvement in kaposiform lymphangiomatosis: A case report.
International journal of surgery case reportsLife-threatening Lymphatic Malformation With Somatic Activating NRAS Mutation Successfully Treated With Trametinib: A Case Study.
Journal of pediatric hematology/oncologyLyve1-Driven NrasQ61R Causes Edema, Enlarged Lymphatic Vessels, and Hepatic Vascular Defects in Embryonic Mice.
Pediatric blood & cancerAdvances in vascular anomalies: refining classification in the molecular era.
HistopathologyKaposiform Lymphangiomatosis as a Cause of Vaginal Bleeding & Discharge: A Case Report.
Journal of pediatric and adolescent gynecologySignificant improvement of a nevus spilus-type congenital melanocytic nevus with oral selumetinib.
Pediatric dermatologyChanges in cell morphology and function induced by the NRAS Q61R mutation in lymphatic endothelial cells.
PloS oneMultimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies.
Pediatric blood & cancerLymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.
Human molecular geneticsNRASQ61R mutation drives elevated angiopoietin-2 expression in human endothelial cells and a genetic mouse model.
Pediatric blood & cancerHow we use angiopoietin-2 in the diagnosis and management of vascular anomalies.
Pediatric blood & cancerDifferential Diagnosis of Generalized Cystic Lymphangiomatosis: A Literature Review.
Current medical imagingRegression of kaposiform lymphangiomatosis and chronic disseminated intravascular coagulation after inhaled budesonide-formoterol treatment.
Pediatric blood & cancerChallenging diagnosis of Kaposiform lymphangiomatosis: Unveiling a rare primary lymphatic disorder.
Radiology case reportsRefractory kaposiform lymphangiomatosis relieved by splenectomy.
Frontiers in pediatricsInsights Image for "Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition".
Pediatric researchPathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Pediatric blood & cancerKaposiform Lymphangiomatosis in a Male Adolescent: A Clinical Challenge and the Role of Genetics.
Journal of investigative medicine high impact case reportsThe novel use of an advanced thrombectomy system to manage a complex pericardial effusion associated with kaposiform lymphangiomatosis.
Cardiology in the youngSplenic Lesions and Other Findings in Kaposiform Lymphangiomatosis.
The American journal of surgical pathologyComplex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines.
Lymphatic research and biologyKaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment.
Pediatric blood & cancer[Kaposiform lymphangiomatosis diagnosed by circulating tumor DNA in a child].
Zhonghua er ke za zhi = Chinese journal of pediatricsRecurrent haemoptysis: a rare diagnosis of kaposiform lymphangiomatosis and review of literature.
BMJ case reportsKaposiform lymphangiomatosis complicated with effusive constrictive pericarditis: a rare systemic malformation involving the heart.
European heart journal. Cardiovascular ImagingNRASQ61R mutation in human endothelial cells causes vascular malformations.
AngiogenesisKaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients.
The American journal of surgical pathologyTreatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.
Pediatric researchKaposiform lymphangiomatosis presenting with a Group A Streptococcus pericardial effusion.
BMJ case reportsCellular variant of kaposiform lymphangiomatosis: a report of three cases, expanding the morphologic and molecular genetic spectrum of this rare entity.
Human pathologyCT and MRI Findings of Focal Splenic Lesions and Ascites in Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease.
Journal of clinical imaging scienceMultidisciplinary Multiagent Treatment of Complex Lymphatic Anomalies with Severe Bone Disease: A Single-Site Experience.
Lymphatic research and biologyCerebrospinal fluid-lymphatic fistula causing spontaneous intracranial hypotension in a child with kaposiform lymphangiomatosis.
Pediatric radiologySirolimus in the treatment of kaposiform lymphangiomatosis.
Orphanet journal of rare diseasesCharacterization of kaposiform lymphangiomatosis tissue-derived cells.
Pediatric blood & cancerHow we approach the diagnosis and management of complex lymphatic anomalies.
Pediatric blood & cancerIsolated abdominal kaposiform lymphangiomatosis: a novel presentation of a rare entity.
PathologyKaposiform lymphangiomatosis effectively treated with MEK inhibition.
EMBO molecular medicineThoracic duct embolization in kaposiform lymphangiomatosis.
Journal of vascular surgery. Venous and lymphatic disordersKaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels.
Pediatric blood & cancerAnalysis of mTOR pathway expression in lymphatic malformation and related diseases.
Pathology internationalBone development and fracture healing is normal in mice that have a defect in the development of the lymphatic system.
Lymphology[Clinical characteristics of Kaposiform lymphangiomatosis: a report of 8 cases].
Zhonghua wai ke za zhi [Chinese journal of surgery]Kaposiform lymphangiomatosis with spinal involvement.
QJM : monthly journal of the Association of PhysiciansMultidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies-expert opinion consensus.
Pediatric blood & cancerDetection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis.
Orphanet journal of rare diseasesKaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences.
Orphanet journal of rare diseasesGeneralized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights.
Advances in wound carePotential biomarkers of kaposiform lymphangiomatosis.
Pediatric blood & cancerThe impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies.
Orphanet journal of rare diseasesSignaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis.
Pediatric blood & cancerVascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options.
Hematology/oncology clinics of North America[Our experience with sirolimus for the treatment of complicated vascular anomalies].
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaA somatic activating NRAS variant associated with kaposiform lymphangiomatosis.
Genetics in medicine : official journal of the American College of Medical GeneticsProliferative Cells From Kaposiform Lymphangiomatosis Lesions Resemble Mesenchyme Stem Cell-like Pericytes Defective in Vessel Formation.
Journal of pediatric hematology/oncologyChest imaging in generalized lymphatic anomaly and kaposiform lymphangiomatosis.
Pediatrics international : official journal of the Japan Pediatric SocietyPseudotumor cerebri in kaposiform lymphangiomatosis: a case report and pathogenetic hypothesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMR imaging findings of vertebral involvement in Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis.
Japanese journal of radiologyVascular anomaly cases for the pediatric hematologist oncologists-An interdisciplinary review.
Pediatric blood & cancerKaposiform Lymphangiomatosis with Human Papillomavirus Infection.
American journal of respiratory and critical care medicineAngiopoietins as serum biomarkers for lymphatic anomalies.
AngiogenesisPoint-of-Care Thoracic Ultrasonography in the Diagnosis and Management of Kaposiform Lymphangiomatosis.
Pediatric emergency careSirolimus in the Treatment of Vascular Anomalies.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieNonmalignant Adult Thoracic Lymphatic Disorders.
Clinics in chest medicineImaging features of kaposiform lymphangiomatosis.
Pediatric radiologyClinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease.
Pediatric blood & cancerSuccessful treatment of kaposiform lymphangiomatosis with sirolimus.
Pediatric blood & cancerAssociações
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Referências e fontes
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- MEK Inhibition Reduces Vascular Malformations and Gene Dysregulation in NRASQ61R Human Endothelial Cells.
- Efficacy and Safety of Trametinib Therapy for Complex Lymphatic Malformations.
- Pregnancy Complicated by 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency and Kaposiform Lymphangiomatosis.
- Case Report: Life-threatening Kasabach-Merritt phenomenon in a 2-month-old child.
- Human Lymphatic Endothelial Cells Expressing NRASQ61R Model Characteristics of Kaposiform Lymphangiomatosis.
- NRAS(Q61R) Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis.
- Trametinib normalizes angiopoietin-2 levels and successfully treats kaposiform lymphangiomatosis.
- Complex Lymphatic Anomalies: A Comprehensive Review of Imaging Features and Diagnostic Considerations.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:464329(Orphanet)
- MONDO:0018736(MONDO)
- GARD:13451(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788298(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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