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Lymphangioleiomyomatosis

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https://www.readbyqxmd.com/read/28445558/clinical-characteristics-of-connective-tissue-nevi-in-tuberous-sclerosis-complex-with-special-emphasis-on-shagreen-patches
#1
Michelle A Bongiorno, Neera Nathan, Oyetewa Oyerinde, Ji-An Wang, Chyi-Chia Richard Lee, G Thomas Brown, Joel Moss, Thomas N Darling
Importance: Patients with tuberous sclerosis complex (TSC) frequently develop collagenous connective tissue nevi. The prototypical lesion is a large shagreen patch located on the lower back, but some patients only manifest small collagenomas or have lesions elsewhere on the body. The ability to recognize these variable presentations can be important for the diagnosis of TSC. Objective: To describe the clinical characteristics of connective tissue nevi on the trunk and extremities of patients with tuberous sclerosis complex...
April 26, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28427470/pulmonary-hypertension-in-lymphangioleiomyomatosis-prevalence-severity-and-the-role-of-carbon-monoxide-diffusion-capacity-as-a-screening-method
#2
Carolina S G Freitas, Bruno G Baldi, Carlos Jardim, Mariana S Araujo, Juliana Barbosa Sobral, Gláucia I Heiden, Ronaldo A Kairalla, Rogério Souza, Carlos R R Carvalho
BACKGROUND: Lymphangioleiomyomatosis (LAM) is included within group 5 of the current PH classification (unclear multifactorial mechanisms). However, data regarding the occurrence of PH in LAM are scarce. The aims of the study were to describe the prevalence and characteristics of PH in a large cohort of LAM patients with different levels of severity, and to evaluate the role of echocardiography and carbon monoxide diffusion capacity (DLCO) as screening methods for PH in LAM. METHODS: One hundred five LAM patients underwent transthoracic echocardiography, pulmonary function tests (PFTs) and 6-min walk test (6MWT)...
April 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28420844/protein-losing-enteropathy-caused-by-intestinal-or-colonic-lymphangiectasia-complicated-by-sporadic-lymphangioleiomyomatosis-a-report-of-two-cases
#3
Koichi Nishino, Kaku Yoshimi, Tomoyoshi Shibuya, Takuo Hayashi, Keiko Mitani, Etsuko Kobayashi, Masako Ichikawa, Tetsuhiko Asao, Yohei Suzuki, Tadashi Sato, Satomi Shiota, Yuzo Kodama, Kazuhisa Takahashi, Kuniaki Seyama
This report describes two patients with sporadic lymphangioleiomyomatosis complicated by protein-losing enteropathy (PLE). Imaging studies indicated retroperitoneal lymphangioleiomyomas and abnormalities of the adjacent digestive tract. Endoscopic mucosal biopsy revealed colonic lymphangiectasia in one patient; whereas the site in the other patient was intestinal. Treatment with sirolimus led to the complete resolution of PLE within several months; additionally, marked shrinkage was observed in the lymphangioleiomyomas of both cases...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#4
J Manalac, S Sadd, G Akoghlanian, T Benoit-Clark
INTRODUCTION: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC. CASE: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28410230/insulin-growth-factor-binding-protein-2-mediates-the-progression-of-lymphangioleiomyomatosis
#5
Xiangke Li, Xiaolei Liu, Linda Zhang, Chenggang Li, Erik Zhang, Wang Ma, Qingxia Fan, Jane J Yu
Lymphangioleiomyomatosis (LAM) is a progressive pulmonary disease that almost exclusively affects women. LAM cells migrate to the lungs, where they cause cystic destruction of lung parenchyma. Mutations in TSC1 or TSC2 lead to the activation of the mammalian target of rapamycin complex-1, a kinase that regulates growth factor-dependent protein translation, cell growth, and metabolism. Insulin-like growth factor binding protein 2 (IGFBP2) binds insulin, IGF1 and IGF2 in circulation, thereby modulating cell survival, migration, and invasion in neoplasms...
March 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28325364/retroperitoneal-lymphangioleiomyoma-with-lymph-node-involvement-a-pathologic-radiologic-correlation-of-a-rare-form-of-myomelanocytic-tumor
#6
Amrou Abdelkader, Cesar A Lam, Kaushik S Shahir, Kathleen Christians, Saul M Suster
Lymphangioleiomyomatosis (LAM) is a rare and slowly progressive disorder that usually arises in the lung, affects exclusively women in their childbearing years, and typically presents with progressive dyspnea on exertion and pneumothorax. Infrequently, extra-pulmonary LAM can occur in the retroperitoneum, uterine wall, mediastinum and intraperitoneal lymph nodes. Histologically, LAM is characterized by a proliferation of perivascular epithelioid cells (PEC) that express markers for both melanocytes and smooth muscle cells...
April 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28298732/imaging-of-tuberous-sclerosis-complex-a-pictorial-review
#7
Felipe Mussi von Ranke, Igor Murad Faria, Gláucia Zanetti, Bruno Hochhegger, Arthur Soares Souza, Edson Marchiori
Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions...
January 2017: Radiologia Brasileira
https://www.readbyqxmd.com/read/28289456/lymphangioleiomyomatosis-lam
#8
(no author information available yet)
LAM is characterised by lung cysts (air-filled sacs which gradually destroy the lung), changes to the lymphatic system and tumours in the kidneys.
March 2017: Breathe
https://www.readbyqxmd.com/read/28288285/reply-to-official-ats-jrs-clinical-practice-guidelines-lymphangioleiomyomatosis-diagnosis-and-management
#9
Francis X McCormack, Nishant Gupta, Geraldine Finlay, Lisa R Young, Simon Johnson, Vincent Cottin, Kevin Wilson, Joel Moss
No abstract text is available yet for this article.
March 13, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28288282/official-ats-jrs-clinical-practice-guidelines-lymphangioleiomyomatosis-diagnosis-and-management
#10
Sergio Harari, Roberto Cassandro, Olga Torre
No abstract text is available yet for this article.
March 13, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28272193/pelvic-lymphangioleiomyomatosis-treated-successfully-with-everolimus-two-case-reports-with-literature-review
#11
REVIEW
Sharjil Wahid, Ping Chia Chiang, Hao Lun Luo, Shun-Chen Huang, Eing-Mei Tsai, Po Hui Chiang
BACKGROUND: Lymphangioleiomyomatosis (LAM) is a rare disease affecting young women caused by abnormal proliferation of smooth muscle-like cells (LAM cells) in the lungs and extrapulmonary sites (extrapulmonary LAM). The objective of this case series is to demonstrate marked regression in 2 cases of retroperitoneal LAM after treatment with everolimus, an mTOR inhibitor. METHODS: We enrolled 2 cases with large volume, extrapulmonary pelvic LAM, and evaluated them with contrast-enhanced abdominal computed tomographic (CT) scans at presentation and serially during treatment with everolimus...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28264540/diagnosis-and-treatment-of-cystic-lung-disease
#12
REVIEW
Sanghoon Park, Eun Joo Lee
Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually < 2 mm). The recognition of CLDs has increased with the widespread use of computed tomography. This article addresses the mechanisms of cyst formation and the diagnostic approaches to CLDs. A number of assessment methods that can be used to confirm CLDs are discussed, including high-resolution computed tomography, pathologic approaches, and genetic/ serologic markers, together with treatment modalities, including new therapeutic drugs currently being evaluated...
March 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28202529/aberrant-syk-kinase-signaling-is-essential-for-tumorigenesis-induced-by-tsc2-inactivation
#13
Ye Cui, Wendy K Steagall, Anthony M Lamattina, Gustavo Pacheco-Rodriguez, Mario Stylianou, Pranav Kidambi, Benjamin Stump, Fernanda Golzarri, Ivan O Rosas, Carmen Priolo, Elizabeth P Henske, Joel Moss, Souheil El-Chemaly
Somatic or germline mutations in the tuberous sclerosis complex (TSC) tumor suppressor genes are associated closely with the pathogenesis of lymphangioleiomyomatosis, a rare and progressive neoplastic disease that predominantly affects women in their childbearing years. Serum levels of the lymphangiogenic growth factor VEGF-D are elevated significantly in lymphangioleiomyomatosis. However, there are gaps in knowledge regarding VEGF-D dysregulation and its cellular origin in lymphangioleiomyomatosis. Here, we show that increased expression and activation of the tyrosine kinase Syk in TSC2-deficient cells and pulmonary nodules from lymphangioleiomyomatosis patients contributes to tumor growth...
March 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28192114/sirolimus-and-autophagy-inhibition-in-lam-results-of-a-phase-i-clinical-trial
#14
Souheil El-Chemaly, Angelo Taveira-Dasilva, Hilary J Goldberg, Elizabeth Peters, Mary Haughey, Don Bienfang, Amanda M Jones, Patricia Julien-Williams, Ye Cui, Julian A Villalba, Shefali Bagwe, Rie Maurer, Ivan O Rosas, Joel Moss, Elizabeth P Henske
BACKGROUND: Animal and cellular studies support the importance of autophagy inhibition in lymphangioleiomyomatosis (LAM). In a cohort of subjects with LAM, we tested the hypothesis that treatment with sirolimus and hydroxycholoroquine (an autophagy inhibitor) at 2 different dose levels is safe and well tolerated. Secondary endpoints included changes in lung function. METHODS: This 48-week, two-center Phase I trial evaluated the safety of escalating oral hydroxychloroquine doses (100-200 mg) given twice a day in combination with sirolimus to eligible patients ≥18 years old with LAM...
February 10, 2017: Chest
https://www.readbyqxmd.com/read/28149746/multifocal-micronodular-pneumocyte-hyperplasia-mmph-in-a-patient-with-tuberous-sclerosis-evidence-for-long-term-stability
#15
Bibek S Pannu, Dinesh R Apala, Aditya Kotecha, Jennifer M Boland, Vivek N Iyer
Multifocal micronodular pneumocyte hyperplasia (MMPH) is rare entity seen mostly in patients with the tuberous sclerosis complex (TSC). We present the case of a 50 year old woman with TSC (confirmed TSC2 mutation) found to have multiple ground glass opacities with an upper lobe predominance on a screening chest CT. No abnormalities were detected in other viscera. A thoracoscopic lung biopsy obtained from right upper lobe confirmed the diagnosis of MMPH. There were no lesions suggestive of lymphangioleiomyomatosis (LAM) either on the chest CT or lung biopsy...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28132530/computed-tomography-lymphangiography-findings-in-27-cases-of-lymphangioleiomyomatosis
#16
Chunyan Zhang, Xiaobai Chen, Tingguo Wen, Qijin Zhang, Meng Huo, Jian Dong, Wen-Bin Shen, Rengui Wang
Background Lymphangioleiomyomatosis (LAM) is a rare disease involving the bronchi, lymphatic vessels, and veins. However, there are few reports about lymphatic vessel abnormalities associated with LAM. Purpose To evaluate computed tomography (CT) lymphangiography findings in cases of LAM, especially lymphatic vessel abnormalities. Material and Methods Twenty-seven patients with LAM underwent direct lymphangiography (DLG), followed by a post-procedural thoracoabdominal CT examination. Results All 27 patients were diagnosed with LAM, including 25 (93%) with chylothorax, eight (30%) with chyloperitoneum, seven (26%) with chylous fluid in the chest and abdomen, and one (4%) with lower-limb lymphedema...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28099079/lymphangioleiomyomatosis-a-monogenic-model-of-malignancy
#17
Vera P Krymskaya, Francis X McCormack
Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure...
January 14, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28096282/the-effect-of-mtor-inhibitors-on-respiratory-infections-in-lymphangioleiomyomatosis
#18
REVIEW
Andrew M Courtwright, Hilary J Goldberg, Elizabeth Petri Henske, Souheil El-Chemaly
Lymphangioleiomyomatosis (LAM) is a destructive cystic lung disease. Mammalian target of rapamycin (mTOR) inhibitors are the primary treatment for LAM but it is unknown whether these immunosuppressing medications increase the risk for or the severity of respiratory infections in LAM patients.We searched multiple databases for original articles that reported the rate of respiratory infections in LAM patients treated with mTOR inhibitors or placebo. We calculated incidence rates for respiratory infections in these groups and incidence rate ratios for respiratory infections and severe respiratory infections in mTOR inhibitors treated versus placebo treated patients...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#19
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28005429/mammalian-target-of-rapamycin-a-target-for-lung-diseases-and-aging
#20
Brian K Kennedy, Juniper K Pennypacker
The mammalian target of rapamycin (mTOR) signaling pathway has been studied in the context of an impressive number of biological processes and disease states, including major diseases of the lung such as idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease, as well as the rare condition lymphangioleiomyomatosis. The involvement of mTOR in so many disease states (in and out of the lung) raises the question how one signaling pathway can have overlapping but diverse roles seemingly everywhere...
December 2016: Annals of the American Thoracic Society
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