Linfangiomiomatose envolvendo os pulmões e os gânglios linfáticos locais. Os pacientes geralmente apresentam derrame pleural quiloso. O curso clínico é variável. Pacientes com lesões ressecáveis geralmente apresentam evolução clínica favorável. Pacientes com lesões difusas geralmente apresentam evolução clínica progressiva.
Introdução
O que você precisa saber de cara
Linfangiomiomatose envolvendo os pulmões e os gânglios linfáticos locais. Os pacientes geralmente apresentam derrame pleural quiloso. O curso clínico é variável. Pacientes com lesões ressecáveis geralmente apresentam evolução clínica favorável. Pacientes com lesões difusas geralmente apresentam evolução clínica progressiva.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12906785, PubMed:15340059, PubMed:24529379, PubMed:28215400). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a
Lysosome membraneCytoplasm, cytosol
Tuberous sclerosis 1
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:33436626, PubMed:35772404). Within the TSC-TBC complex
Lysosome membraneCytoplasm, cytosol
Tuberous sclerosis 2
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
3,948 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 7 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Linfangioleiomiomatose
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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10 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
51 ensaios clínicos encontrados, 13 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 962
Tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many hamartomas contain mosaic second hit variants in TSC1 or TSC2. The most disabling features of TSC include epilepsy and TSC-associated neuropsychiatric disorders (TAND) such as intellectual disability and autism spectrum disorder. Remarkable progress has been made both in understanding the pathogenesis of TSC and in its clinical management, largely due to the discovery of the link between TSC1 and TSC2 and the mechanistic target of rapamycin (mTOR) signalling pathway. TSC1 and TSC2 form a protein complex that inhibits mTOR. Naturally occurring inhibitors of mTOR (rapamycin) and its analogues, collectively known as rapalogues, have been used to test various hypotheses in preclinical models and are approved for the treatment of several manifestations of TSC. Approved drug treatments (rapalogues) exist for subependymal giant cell astrocytomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas and refractory seizures. However, there is still an unmet need for effective treatment of TAND and refractory epilepsy, despite the available medical and surgical options.
Choriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.
Choriocarcinoma is a highly aggressive malignant germ cell tumour containing syncytiotrophoblasts that secrete beta-human chorionic gonadotropin, and it has a poor prognosis, with a dismal 5-year survival rate of <5%. It generally affects young individuals. Cystic lesions in the lung are uncommon in malignancies that can predispose patients to spontaneous pneumothorax. Multiple cystic lesions are less commonly seen in metastatic disease. Diffuse cystic lung diseases (DCLD) are a group of diseases characterised by cysts in the bilateral lung fields that are not necessarily evenly distributed. The differential diagnosis is limited and typically includes lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis. Sometimes, metastatic malignancy can present as DCLD. Metastatic leiomyoma, endometrial stromal sarcoma and cellular fibrous histiocytic tumours have been reported as causes of lung cysts. We report a case of choriocarcinoma with cystic lung metastasis in a woman in her 30s.
Dual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.
A female patient in the 70s presented with bilateral flank pain and haematuria. Evaluation confirmed tuberous sclerosis complex (TSC) with cutaneous findings, a giant renal angiomyolipoma (AML) in the patient's left kidney with a bleeding pseudoaneurysm, and a large mass in the right kidney containing distinct AML and high-grade renal cell carcinoma tumours. Situs inversus totalis was noted. Transarterial embolisation controlled the haemorrhage from the left kidney, followed by open partial nephrectomy on the right kidney to address the malignancy while preserving renal function. Everolimus was initiated post discharge to manage residual AMLs and lymphangioleiomyomatosis. Histopathology confirmed dual pathology in the right kidney. The patient recovered well, with stable renal function and resolved haematuria at 6 months. This case underscores the need for comprehensive imaging, histopathological confirmation and nephron-sparing strategies in managing complex renal pathologies in TSC, particularly with anatomical anomalies such as situs inversus.
Human blood cell traits and sporadic lymphangioleiomyomatosis: results from mediation joint multi-omics and eQTL Mendelian randomization analysis.
To investigate the genetic causality between Human blood cell (HBC) traits and sporadic lymphangioleiomyomatosis (sLAM) by mediation joint multi-omics and eQTL Mendelian randomization analysis. Quality control processes were followed to select eligible instrumental variables strongly associated with 35 kinds of HBC traits. Independent cohort of European ancestry with sLAM and lung function genome-wide association study (GWAS) summary statistics were used separately. We utilized a two-step MR approach to explore potential mediators and evaluate the proportion of effect mediated in the associations linking HBC trait candidates to sLAM. Finally MR analysis integrating single cell expression quantitative trait loci (sc-eQTL) from 14 immune cell types with GWAS of sLAM was conducted. Increased level of basophil count was positively associated with higher risk of sLAM (BASO#; OR = 3.878, 95%CI:1.137–13.221, P = 0.030). No evidences of horizontal pleiotropy were observed. The multivariable MR still demonstrated that BASO# was genetically associated with the risk of sLAM after adjustment for other blood traits in the same category(OR = 5.918, 95% CI:1.275–27.468 P = 0.023) and estradiol (OR = 3.814, 95% CI:1.130-12.874, P = 0.031) respectively. No evidence for associations between basophil traits (BASO# and basophil percentage of white cells: BASO%) and lung functions containing forced vital capacity (FVC) and forced expiratory volume in 1 s/forced vital capacity(FEV1/FVC). The estimated degree of transitional B cell absolute count mediated the effect of BASO# on sLAM by 36%, while no mediating factors, including immune cells, inflammatory proteins, VEGF-related proteins were found. We identified 12 genes in 14 immune cell types that may have a putative causal relationship with sLAM by mediating through the regulation of BASO#, such as EGFL8, PAX8, KANSL1-AS and L3MBTL3. L3MBTL3 was implicated across several immune cell types. For the first time, this study leverages mediation analysis and multi-omics MR integrated with sc-eQTL data to elucidate the roles of HBC traits, immune cells, inflammatory proteins, VEGF-related proteins and immune cell-specific genes in the pathogenesis of sLAM among the European populations. The online version contains supplementary material available at 10.1186/s13023-026-04224-6.
CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis.
Lymphangioleiomyomatosis (LAM) is a rare, multisystemic metastatic disease. Chemokines are implicated in promoting LAM cell migration and tumor progression. Our prior plasma proteomics identified elevated C-C motif chemokine ligand 14 (CCL14) in LAM, yet its role remains unexplored. Proteomic analysis identified CCL14 as differentially expressed in LAM patients versus healthy controls. Single-cell RNA sequencing (scRNA-seq) of lung tissues (six LAM patients, five healthy donors) identified the cellular source of CCL14 and explored its functional pathways bioinformatically. ELISA-quantified plasma CCL14 levels were analyzed for correlations with clinical phenotypes and longitudinal disease progression in 53 LAM patients and 25 controls. Proteomics and scRNA-seq revealed upregulation of CCL14 in LAM patients, primarily localized to lymphatic and vascular endothelial cells. Functional enrichment linked CCL14 to proliferative (mTORC1, MYC), inflammatory (TNF-α/NF-κB), and chemotactic pathways. CellPhoneDB indicated CCL14 mediates interactions between endothelial cells and innate immune/alveolar epithelial cells, and between endothelial cells themselves, via ACKR2, CCR3 and CCR1. Clinically, plasma CCL14 levels were significantly elevated in LAM patients versus controls (p = 0.003). Subgroup analyses demonstrated higher CCL14 levels in patients with angiomyolipomas (AMLs) versus those without, and in CT grade III versus grade I/II. Critically, CCL14 predicted disease progression: baseline CCL14 levels were higher in progressive versus stable patients (p = 0.0266) and positively correlated with annual increase in the percentage of cystic lung volume (r = 0.4051, p = 0.0446). CCL14 is a critical regulatory molecule within the LAM microenvironment and a promising biomarker for disease severity and progression.
Publicações recentes
PEComas: Current Concepts in Diagnosis, Molecular Pathways, and Emerging Treatments.
Bilateral Lung Transplantation for Lymphangioleiomyomatosis With Secondary Pulmonary Hemosiderosis: A Case Report.
🥇 Ensaio randomizadoInteraction of estrogen and interleukin 6 in the progression of lymphangioleiomyomatosis.
🥇 Meta-análiseDiffuse Alveolar Hemorrhage in Lymphangioleiomyomatosis.
Access to lymphangioleiomyomatosis care across Europe: an ERN-LUNG survey of clinical practice, and the case for a European registry and trial network.
📚 EuropePMC1.401 artigos no totalmostrando 198
LAMCAK pilot study: urinary cathepsin K as a potential biomarker in lymphangioleiomyomatosis.
ERJ open researchTuberous sclerosis complex.
Nature reviews. Disease primersA case description: lymphangioleiomyomatosis mimicking ovarian cyst.
Quantitative imaging in medicine and surgeryA Case Series of Lymphangioleiomyomatosis, a Rare Cystic Lung Disease.
Respirology case reportsHigh Prevalence of TSC2 Mutations in Lung Tissue Samples from Patients with Sporadic Lymphangioleiomyomatosis (LAM).
The European respiratory journalThree cases of whole breast irradiation for breast cancer in patients with Lymphangioleiomyomatosis (LAM).
Breast cancer (Tokyo, Japan)Uterine PEComa With Lymphangioleiomyomatosis (LAM)-Like Features: A Case Report.
Case reports in pathologyDiagnostic Value of Serum VEGF-D in Lymphangioleiomyomatosis: Results of the First Prospective Study in the Russian Federation.
Diagnostics (Basel, Switzerland)Cystic lung diseases in the daily routine: a comprehensive step-wise algorithm for the radiological diagnosis of cystic lung lesions and diffuse cystic lung diseases.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinVisualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace.
Intractable & rare diseases researchChoriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.
BMJ case reportsEducational attainment of individuals with lymphangioleiomyomatosis is a determinant of timely diagnosis and treatment uptake.
Orphanet journal of rare diseasesDeterminants of adherence to sirolimus among lymphangioleiomyomatosis patients.
BMC pulmonary medicineTuberous sclerosis complex with multisystem involvement: A case report.
The Journal of international medical researchDual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.
BMJ case reportsHuman blood cell traits and sporadic lymphangioleiomyomatosis: results from mediation joint multi-omics and eQTL Mendelian randomization analysis.
Orphanet journal of rare diseasesCCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis.
Orphanet journal of rare diseasesRenal Angiomyolipoma in a Young Woman With Tuberous Sclerosis: A Case Report.
Clinical case reportsSelective embolization of a renal angiomyolipoma using n-butyl-2-cyanoacrylate‒lipiodol‒iopamidol mixture under microballoon occlusion resulting in tumor reduction and preservation of normal renal blood flow: A case report.
Radiology case reportsRadiologic Approach to Cystic Lung Diseases: From Cyst Definition to Diagnosis.
Seminars in roentgenologyRecent advances in understanding the pathogenesis, diagnosis, and treatment of tuberous sclerosis complex (TSC)-associated Lymphangioleiomyomatosis.
Biochemical pharmacologySix-minute walk distance predicting the risk of mortality in lymphangioleiomyomatosis patients.
Orphanet journal of rare diseasesA successful pregnancy in advanced lymphangioleiomyomatosis: A case report and review of pregnancy management in LAM.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics[Analysis of the protective effects of low-dose sirolimus on lung function in patients with lymphangioleiomyomatosis].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesHigh-Throughput Proteomics in Lymphangioleiomyomatosis: Premelanosome Protein as a Diagnostic Biomarker, Construction of a Diagnosis Score, and Evidence of Neutrophil Involvement.
ChestRecurrent Pneumothorax Revealing Lymphangioleiomyomatosis in a Young Woman: A Case Report.
Clinical case reportsExtracellular Matrix Deposition Drives Disease Progression and Reduces Rapamycin Response in LAM.
The European respiratory journal[Clinicopathological and molecular genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH)].
Zhonghua bing li xue za zhi = Chinese journal of pathologyRare co-existence of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge.
Journal of applied geneticsCurious Coexistence of Perivascula Epitheloid Cell Tumour (PEComa) Systemic Sclerosis-Associated Interstitial Lung Disease and Biopsy-Proven Lymphangioleiomyomatosis in a Middle-Aged Female: A Case Report.
CureusSpontaneous Pneumothorax: A Review of Underlying Etiologies and Diagnostic Imaging Modalities.
Tomography (Ann Arbor, Mich.)Extracellular vesicles modulate integrin signaling and subcellular energetics to promote pulmonary lymphangioleiomyomatosis metastasis.
Communications biology[A case of diffuse cystic lung disease with severe pulmonary hypertension in a reproductive-aged female].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesRobot-assisted laparoscopic resection of giant left renal angiomyolipoma and multiple left retroperitoneal angiomyolipomas: a case report of lymphangioleiomyomatosis.
BMC urologyPrevalence and assessment of exercise-induced desaturation in lymphangioleiomyomatosis.
ThoraxPEComas of the colon and rectum: a case report of a 15-year-old girl and a review of the pertinent literature.
Clinical journal of gastroenterologyNanomedicine for lymphangioleiomyomatosis: toward targeted and durable anti-fibrotic therapy.
Annals of medicine and surgery (2012)GPNMB immunohistochemistry is a useful ancillary tool for the diagnosis of pulmonary lymphangioleiomyomatosis.
Histopathology[Retroperitoneal lymph node lymphangioleiomyomatosis: tumor with an ambiguous clinical course].
Arkhiv patologiiCurrent Perspectives on The Diagnosis and Management of Lymphangioleiomyomatosis.
Clinics in chest medicinemTOR dysregulation induces IL-6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis.
Nature communicationsDirect modulation of TRPM8 ion channels by rapamycin and analog macrolide immunosuppressants.
eLifeBeyond the uterus: diagnostic puzzle unravelled as benign metastasising leiomyomatosis with retroperitoneal and pulmonary involvement.
BMJ case reportsEmerging Concepts in Pathogenesis, Multiomics Applications, and Clinical Research in Lymphangioleiomyomatosis.
Seminars in respiratory and critical care medicineMediastinal lymphangioleiomyomatosis: a case report and literature review.
Frontiers in oncologyAn Unusual Case of Primary Sjögren's Syndrome and Lymphangioleiomyomatosis Diagnosed From Refractory Cough.
CureusExtrapulmonary lymphangioleiomyomatosis: an incidental finding detected in surgery for gynecological malignancies.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyExtracellular Matrix and Fibroblast Activation in Lymphangioleiomyomatosis.
American journal of respiratory cell and molecular biologySporadic lymphangioleiomyomatosis in young female patient: A case report and review of the literature.
International journal of surgery case reportsInflammatory, Functional, and Compositional Changes of the Uterine Immune Microenvironment in a Lymphangioleiomyomatosis Mouse Model.
Journal of cellular immunologyExploring the uncharted role of cell senescence in rare diseases.
Orphanet journal of rare diseasesLAM-CAM: In Vivo Model for Rapid Analysis of Lymphangioleiomyomatosis Tumor Formation and Inhibition.
American journal of respiratory cell and molecular biologySuccessful live birth via in vitro fertilization in a patient with lymphangioleiomyomatosis: a case report.
Journal of medical case reportsGiant renal angiomyolipoma unmasks underlying lymphangioleiomyomatosis: a case report and literature review.
Frontiers in medicineMortality in Tuberous sclerosis Complex: Current understandings.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyFGFR4 p.Gly388Arg polymorphism in PBMCs of LAM patients: findings of a pilot study.
Frontiers in medicineNovel treatment strategies for lymphangioleiomyomatosis: a narrative review.
European respiratory review : an official journal of the European Respiratory SocietySporadic Lymphangioleiomyomatosis in a 35-Year-Old Female Patient: A Rare Cause of Spontaneous Pneumothorax.
CureusRadiological Manifestations of Lymphangioleiomyomatosis: A Local Patient Cohort Analysis.
CureusA potential new entity pending further validation of pulmonary primary interstitial Tumor: Lymphangioleiomyomatosis-like.
Respiratory medicine case reportsSmall extracellular vesicles and induction of epithelial-to-mesenchymal transition in lymphangioleiomyomatosis.
The European respiratory journalExhaled Breath Analysis in Lymphangioleiomyomatosis by Real-Time Proton Mass Spectrometry.
International journal of molecular sciencesDiagnostic Challenges in Lymphangioleiomyomatosis: From Ovarian Mass to Systemic Diagnosis.
Acta medica LituanicaModulation of infiltrating CD206+ macrophages restricts progression of pulmonary lymphangioleiomyomatosis.
The European respiratory journalGenetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.
Scientific reportsDisease Classification of Pulmonary Xenon Ventilation MRI Using Artificial Intelligence.
Academic radiologyExpanding the radiological spectrum of Lymphangioleiomyomatosis: A case with Unique imaging findings.
Respiratory investigationNeutrophil and neutrophil-lymphocyte ratios as predictors of clinical characteristics in patients with Lymphangioleiomyomatosis.
Frontiers in medicineSirolimus Use During Pregnancy in Women with Lymphangioleiomyomatosis.
Annals of the American Thoracic SocietyRare pulmonary diseases and pulmonary hypertension.
Current opinion in pulmonary medicineCystic Lung Phantom to Validate Clinical CT Protocols.
Methods and protocolsMultifocal micronodular pneumocyte hyperplasia and splenic hamartomas in tuberous sclerosis complex: A case report.
Radiology case reportsSpectrum of Renal Angiomyolipoma with Radiologic-Pathologic Correlation.
Radiographics : a review publication of the Radiological Society of North America, IncCurrent concepts in the pathogenesis and clinical management of lymphangioleiomyomatosis.
Current opinion in pulmonary medicine[Evaluation of 18F-fibroblast activation protein inhibitor-42 PET/CT in lymphangioleiomyomatosis and its correlation with vascular endothelial growth factor-D].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesAutocrine Transforming Growth Factor-β Signaling Promotes Cell Motility and Chemokine Secretion in an Angiomyolipoma-Derived Cell Model of Lymphangioleiomyomatosis.
The American journal of pathologyIncreased malignancy risk in patients with lymphangioleiomyomatosis: findings from a Chinese cohort.
Orphanet journal of rare diseasesIron metabolism disorder and artesunate inhibiting tumor growth by inducing ferroptosis in Lymphangioleiomyomatosis.
Respiratory researchPulmonary lymphangioleiomyomatosis (LAM) having no extra-pulmonary manifestations with chemical and mechanical pleurodesis: A case report and review of literature.
Radiology case reportsAssociations of VEGF-D levels with clinical manifestations in lymphangioleiomyomatosis: a cross-sectional analysis of 631 cases.
Orphanet journal of rare diseases[Radiology of cysts: Analysis and classification of pulmonary and hepato-pancreatic cysts on imaging].
Annales de pathologieInhibition of NAMPT as a therapeutic strategy to suppress tumor growth in lymphangioleiomyomatosis.
Biochimica et biophysica acta. Molecular cell research[Pulmonary cystic lesions in a young female patient].
PraxisPEComa-its clinical features, histopathology, and current therapy.
Japanese journal of clinical oncologyMechanisms of exercise limitation and pulmonary rehabilitation in patients with cystic lung diseases.
Expert review of respiratory medicineReal-Time Identification of Lymph Vessels Using Indocyanine Green in a Patient With Chylothorax Associated With Lymphangioleiomyomatosis.
Asian journal of endoscopic surgery[Lymphangioleiomyomatosis: Update on Pathophysiology, Diagnosis, and Treatment].
Revista medica de ChileA Gain-of-Function Mutation in Mechanistic Target of Rapamycin Results in a Tuberous Sclerosis Complex-Like Manifestation of Parenchymal Lung Disease.
ChestLate living-donor kidney transplantation from the same donor after living-donor lobar lung transplantation.
JHLT openA challenging convergence of conditions in a patient with thalassemia major presenting with thymoma and lymphangioleiomyomatosis: a case report.
Journal of medical case reportsLung Transplantation Outcomes and Peritransplant Sirolimus Use in Lymphangioleiomyomatosis.
Annals of thoracic surgery short reportsPediatric reference values of VEGF-D derived from a German population-based cohort of healthy children.
Clinica chimica acta; international journal of clinical chemistryGenetic Mutations and Post-Lung Transplant Complications: A Case of Hereditary Transthyretin Amyloidosis.
Transplantation proceedingsBeyond the Graft: Recurrence of Interstitial Lung Diseases Post Transplant.
Journal of clinical medicineIllness cognition, illness perception and related factors in patients with lymphangioleiomyomatosis.
Orphanet journal of rare diseasesBrazilian Thoracic Association recommendations for the management of lymphangioleiomyomatosis.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaPrevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China.
Orphanet journal of rare diseases[Incidental diagnosis of lymphangioleiomyomatosis in gynecological surgery-a case series].
Pathologie (Heidelberg, Germany)Targeting fibroblast-endothelial cell interactions in LAM pathogenesis using 3D spheroid models and spatial transcriptomics.
JCI insightSynergistic effects of mTOR inhibitors with VEGFR3 inhibitors on the interaction between TSC2-mutated cells and lymphatic endothelial cells.
Science China. Life sciencesLymphangioleiomyomatosis and Pregnancy-Do We Have All the Answers for a Woman Who Desires to Conceive?-Literature Review.
CancersCharacteristics and outcomes of patients with LAM receiving sirolimus in France based on real-life data.
Frontiers in medicineThirty years of lung transplantation: development of postoperative outcome and survival over three decades.
Journal of thoracic diseaseImmature Smooth Muscle Infiltration in Sporadic Lymphangioleiomyomatosis: A Case Study.
South Dakota medicine : the journal of the South Dakota State Medical AssociationA Novel Case of Pulmonary Sclerosing Diffuse PEComatosis With Neuroendocrine Cell Hyperplasia.
The American journal of surgical pathologyAbdominal lymphangioleiomyomatosis in a man presenting with gastrointestinal hemorrhage as the first manifestation: a case report.
Frontiers in medicineLymphangioleiomyomatosis of the Pelvic Lymph Nodes Detected Incidentally During Surgical Staging of Gynecological Malignancies: Comprehensive Clinicopathological Analysis of 17 Consecutive Cases from a Single Institution.
In vivo (Athens, Greece)Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.
Frontiers in medicineSTAT1 Promotes PD-L1 Activation and Tumor Growth in Lymphangioleiomyomatosis.
bioRxiv : the preprint server for biologyAdrenal PEComa Treated by Surgical Resection and Postoperative Radiotherapy: A Case Report.
The American journal of case reportsPericardial Effusion as a Presentation of Lymphangioleiomyomatosis.
CureusTuberous Sclerosis Complex Demonstrated on 18 F-FDG PET/CT.
Clinical nuclear medicinePrimary thymic mucosa-associated lymphoid tissue (MALT) lymphoma with Sjogren's syndrome and diffuse cystic lung disease: a complex respiratory presentation of a multifaceted autoimmune disease.
BMJ case reportsUnlocking the clinical potential of paired inspiratory and expiratory CT scans in the differential diagnosis of cystic lung diseases: A systematic review.
PloS oneThe development for emerging biomarkers of lymphangioleiomyomatosis.
Orphanet journal of rare diseasesEvolution of Diffusing Capacity of the Lungs for Carbon Monoxide in Lymphangioleiomyomatosis: Historical Perspectives and the Role of Advanced Imaging.
ChestThe Bi-steric Inhibitor RMC-5552 Reduces mTORC1 Signaling and Growth in Lymphangioleiomyomatosis.
American journal of respiratory cell and molecular biologyLymphangioleiomyomatosis: A Review.
Archives of pathology & laboratory medicineEnhanced Gαq Signaling in TSC2-Deficient Cells Is Required for Their Neoplastic Behavior.
American journal of respiratory cell and molecular biologyThe challenge of therapeutic options for patients with lymphangioleiomyomatosis.
The Lancet. Respiratory medicineNintedanib for patients with lymphangioleiomyomatosis: a phase 2, open-label, single-arm study.
The Lancet. Respiratory medicineHereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors.
Oncology (Williston Park, N.Y.)Repurposing Nitazoxanide for Potential Treatment of Rare Disease Lymphangioleiomyomatosis.
BiomoleculesTuberous sclerosis-associated pulmonary lymphangioleiomyomatosis: The role of pulmonary rehabilitation - A case report.
Respiratory medicine case reportsPEComas: A review of imaging and clinical features.
Clinical imagingQuantifying Spatial Distribution of Ventilation Defects in Multiple Pulmonary Diseases With Hyperpolarized 129Xenon MRI.
Journal of magnetic resonance imaging : JMRISuccessful Treatment of Postmenopausal Exacerbation of Abdominal Lymphangioleiomyomatosis With Sirolimus: A Report of a Rare Case.
CureusPulmonary Lymphatics History, Anatomy, and Pathophysiology: Emerging Knowledge and a Look to the Future.
LymphologyClinical and Functional Outcomes Associated with Quality of Life in Patients with Lymphangioleiomyomatosis: A Cross-Sectional Study.
LungSurgical Management of Solitary Extrapulmonary Lymphangioleiomyomatosis in the Mesentery: A Case Report.
CureusA case report and review of rheumatoid arthritis co-occurring with tuberous sclerosis complex, a rare occurrence.
Frontiers in immunologyLymphangioleiomyomatosis and its Treatment: When to Start?
Archivos de bronconeumologiaUterine lymphangioleiomyomatosis in a premenopausal woman with tuberous sclerosis: A case report.
Case reports in women's healthExtracellular vesicles regulate metastable phenotypes of lymphangioleiomyomatosis cells via shuttling ATP synthesis to pseudopodia and activation of integrin adhesion complexes.
bioRxiv : the preprint server for biologyDiagnostic Accuracy of Computed Tomography in Lymphangioleiomyomatosis.
Acta medica portuguesaManagement of a rare case of lymphangioleiomyomatosis complicated by recurrent pneumothorax.
BMJ case reportsOmics research in lymphangioleiomyomatosis: status and challenges.
Expert review of respiratory medicineA Comparison of Clinical and Radiological Presentations of Sporadic and Tuberous Sclerosis Complex-Associated Lymphangioleiomyomatosis.
American journal of medical genetics. Part ASurgical management of pleural complications in lymphangioleiomyomatosis.
The Journal of thoracic and cardiovascular surgeryDiffuse Cystic Lung Disease: A Clinical Guide to Recognition and Management.
ChestHemoptysis Associated with Sexual Activity in Lymphangioleiomyomatosis.
Annals of the American Thoracic SocietySpontaneous Hydropneumothorax After Pleurodesis in a Patient With Pulmonary Lymphangioleiomyomatosis With Associated Endometrial Cancer.
CureusDiagnostic value of serum vascular endothelial growth factor-D in Korean patients with lymphangioleiomyomatosis.
Therapeutic advances in respiratory diseaseLong-term safety and influence on growth in patients receiving sirolimus: a pooled analysis.
Orphanet journal of rare diseasesMultisystem Lymphangioleiomyomatosis.
Radiology[Clinical features of pulmonary hypertension in lymphangioleiomyomatosis].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesClinical Trial Validation of Automated Segmentation and Scoring of Pulmonary Cysts in Thoracic CT Scans.
Diagnostics (Basel, Switzerland)Unsupervised Exercise in Interstitial Lung Disease: A Delphi Study to Develop a Consensus Preparticipation Screening Tool for Lymphangioleiomyomatosis.
ChestPlasmacytoid Dendritic Cells: Bring a Glimmer of Hope for Patients with Lymphangioleiomyomatosis.
American journal of respiratory cell and molecular biologyPlasmacytoid Dendritic Cells Mediate CpG-ODN-induced Increase in Survival in a Mouse Model of Lymphangioleiomyomatosis.
American journal of respiratory cell and molecular biologyDevelopment and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex.
Journal of medical geneticsImproved Diffusion-Weighted Hyperpolarized 129Xe Lung MRI with Patch-Based Higher-Order, Singular Value Decomposition Denoising.
Academic radiologySafety and efficacy of COVID-19 vaccination in the Chinese population with pulmonary lymphangioleiomyomatosis: a single-center retrospective study.
Orphanet journal of rare diseasesGenetic background of pulmonary (vascular) diseases - how much is written in the codes?
Current opinion in pulmonary medicineA 20-year-old woman with chronic cough and dyspnea.
Proceedings (Baylor University. Medical Center)Novel developments in the study of estrogen in the pathogenesis and therapeutic intervention of lymphangioleiomyomatosis.
Orphanet journal of rare diseasesLung cancer and lymphangioleiomyomatosis: A common complication in an uncommon condition.
Respirology (Carlton, Vic.)Single Lung Transplantation After Open Window Thoracotomy for Empyema: A Case Report.
Transplantation proceedingsStepwise Incremental Dose Schedule of Sirolimus Is Successfully Tolerated by a Patient With Lymphangioleiomyomatosis Who Was Initially Allergic to mTOR Inhibitors.
CureusHepatic perivascular epithelioid cell tumors: Benign, malignant, and uncertain malignant potential.
World journal of gastroenterologyA Study on the Psychological Profile and Coping With the Disease in Patients With Lymphangioleiomyomatosis.
Open respiratory archivesEffect of mTOR inhibitors on the mortality and safety of patients with lymphangioleiomyomatosis on the lung transplantation waitlist: A retrospective cohort study.
Respiratory investigationGiant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaGiant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female.
Case reports in neurological medicineNative lung surgery after single lung transplantation: clinical characteristics and outcomes.
Surgery today[Diffuse cystic lung disease].
Therapeutische Umschau. Revue therapeutiqueLymphangioleiomyomatosis as a potent lung cancer risk factor: Insights from a Japanese large cohort study.
Respirology (Carlton, Vic.)A Case Report of Malignant Perivascular Epithelioid Cell Tumors of the Uterus and Literature Review.
International journal of women's healthGlycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis.
Endocrine-related cancerCase report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic TSC2 inactivation.
Frontiers in oncologyLymphangioleiomyomatosis: Rapidly Progressive Retroperitoneal Cystic Tumor Mimicking Malignancy.
Internal medicine (Tokyo, Japan)A 24-year-Old woman with recurrent pneumothoraces.
Respiratory medicine case reportsTuberous sclerosis complex associated lymphangioleiomyomatosis caused by de novo mutation of TSC2 gene in Vietnam: A case report.
Respirology case reportsLymphangioleiomyomatosis and pregnancy: a mini-review.
Archives of gynecology and obstetricsEpidemiology of patients with lymphangioleiomyomatosis: A descriptive study using the national database of health insurance claims and specific health checkups of Japan.
Respiratory investigationAn Uncommon Presentation of Renal Angiomyolipoma: A Case Report.
CureusAn elderly woman with Birt-Hogg-Dubé syndrome having multiple pulmonary cysts mimicking lymphangioleiomyomatosis.
Respiratory investigation[Lymphangioleiomyomatosis].
La Revue du praticienPerivascular Epithelioid Cell-Family Tumors in Children, Adolescents, and Young Adults: Clinicopathologic Features in 70 Cases.
Archives of pathology & laboratory medicineDesquamative interstitial pneumonia: A case report.
Experimental and therapeutic medicineLymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.
Orphanet journal of rare diseasesIntraoperative mechanical ventilation and incidence of pneumothorax in lymphangioleiomyomatosis.
Orphanet journal of rare diseasesIncreasing the scan-efficiency of pulmonary imaging at 0.55 T using iterative concomitant field and motion-corrected reconstruction.
Magnetic resonance in medicineBayesian two-stage modeling of longitudinal and time-to-event data with an integrated fractional Brownian motion covariance structure.
BiometricsClinical, tomographic and functional comparison of sporadic and tuberous sclerosis complex-associated forms of lymphangioleiomyomatosis: a retrospective cohort study.
ERJ open researchCase report: If it is not asthma-think of lymphangioleiomyomatosis in younger female patients.
Frontiers in medicineAn unusual case of metastatic trophoblastic neoplasm presenting with diffuse cystic lung disease and pulmonary artery pseudoaneurysms in a teenager.
Pediatric pulmonologyUltra-low dose chest CT with silver filter and deep learning reconstruction significantly reduces radiation dose and retains quantitative information in the investigation and monitoring of lymphangioleiomyomatosis (LAM).
European radiologyA chylothorax in a young woman: The difficulties of medical management.
Respirology case reportsComplications of lymphangioleiomyomatosis in pregnancy: a case report and review of the literature.
AJOG global reportsIdentification of Lymphangioleiomyomatosis-associated Serum MicroRNAs.
American journal of respiratory cell and molecular biologySoft Tissue Perivascular Epithelioid Cell Tumors.
Surgical pathology clinicsThe role of moesin in diagnosing and assessing severity of lymphangioleiomyomatosis.
Respiratory researchCase of the Month from the Peter MacCallum Cancer Centre, Melbourne, Australia: an operative approach to large renal angiomyolipoma associated with lymphangioleiomyomatosis.
BJU internationalTFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex.
Nature communicationsSmall airways morphological alterations associated with functional impairment in lymphangioleiomyomatosis.
BMC pulmonary medicineLymphangioleiomyomatosis: No Longer Ultra-rare.
American journal of respiratory and critical care medicineA case report of lymphangioleiomyomatosis with retroperitoneal masses in pregnancy.
Frontiers in medicineAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Tuberous sclerosis complex.
- Choriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.
- Dual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.
- Human blood cell traits and sporadic lymphangioleiomyomatosis: results from mediation joint multi-omics and eQTL Mendelian randomization analysis.
- CCL14, identified by multi-omics approach, serves as a novel indicator of disease severity and progression in lymphangioleiomyomatosis.
- PEComas: Current Concepts in Diagnosis, Molecular Pathways, and Emerging Treatments.
- Bilateral Lung Transplantation for Lymphangioleiomyomatosis With Secondary Pulmonary Hemosiderosis: A Case Report.
- Interaction of estrogen and interleukin 6 in the progression of lymphangioleiomyomatosis.
- Diffuse Alveolar Hemorrhage in Lymphangioleiomyomatosis.
- Access to lymphangioleiomyomatosis care across Europe: an ERN-LUNG survey of clinical practice, and the case for a European registry and trial network.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:538(Orphanet)
- MONDO:0006277(MONDO)
- GARD:3319(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1878759(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
