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Multiple symmetric lipomatosis

Oliver Felthaus, Teresa Schön, Daniel Schiltz, Thiha Aung, Britta Kühlmann, Friedrich Jung, Alexandra Anker, Silvan Klein, Lukas Prantl
BACKGROUND: Multiple symmetric lipomatosis is a rare disease characterized by the excessive growth of uncapsulated masses of adipose tissue. Although the etiology has yet to be elucidated, a connection to brown adipose tissue has been proposed recently. The mTOR pathway which is found to be regulated in lipomatous tissue as well as associated with brown adipose tissue can be inhibited by a compound called rapamycin. METHODS: We isolated adipose tissue derived stem cells from both affected and unaffected tissue and treated these cells with different concentrations of rapamycin...
2018: Clinical Hemorheology and Microcirculation
R Ríos León, L Crespo Pérez, I García de la Filia Molina
No abstract text is available yet for this article.
April 18, 2018: Revista de Gastroenterología de México
M Mayo Yáñez, N González Poggioli, M Álvarez-Buylla Blanco, J Herranz González-Botas
Benign symmetrical lipomatosis (BSL) is a rare disorder characterized by diffuse, multiple, symmetric and non-encapsulated fat masses generally localized in the face, neck and upper trunk. An uncommon case of lingual affliction in BSL, presented with macroglossia, sleep apnea, dysphagia and dysartria is described. Bilateral partial glossectomy was performed, with an improvement in initial symptoms one year after surgery. Only seven other BSL cases with lingual involvement have been reported in the literature...
November 10, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
Ke Chen, Linghao Wang, Wenjun Yang, Changfa Wang, Gui Hu, Zhaohui Mo
Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by aberrant multiple and symmetric subcutaneous adipose tissue accumulation in the face, neck, shoulders, back, chest and abdomen, severely affecting the quality of life of patients. At present, precise MSL etiology and pathogenesis remain to be elucidated. The present study first utilized a digital gene expression technique with a next‑generation sequencing platform to profile differentially expressed genes in three cases of MSL vs. normal control tissue...
November 2017: Molecular Medicine Reports
Bartosz Hudzik, Janusz Szkodziński, Mariusz Gąsior, Barbara Zubelewicz-Szkodzińska
No abstract text is available yet for this article.
June 30, 2017: Polish Archives of Internal Medicine
Samuel P Prahlow, Patrick Kosciuk, Joseph A Prahlow
A significant number of medicolegal deaths involve ethanol. Deaths may be related to the acute, intoxicating effects of ethanol, either in decedents or within persons responsible for causing the deaths of others. Additionally, deaths may be related to chronic alcoholism. A chronic alcoholic may display characteristic external features which allow an observer, such as a forensic pathologist or other physician, to conclude that he/she is probably an alcoholic. Herein, the authors report two decedents with a rare condition known as "multiple symmetric lipomatosis" (MSL), which has a strong correlation with chronic alcoholism...
January 2018: Journal of Forensic Sciences
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
Meimei Tian, Yan Liu, Zhongji Zhi, Yukun Li
Multiple symmetric lipomatosis is a rare disease characterized by a symmetrical accumulation of massive adipose tissue on the neck, the superior part of the trunk, and limbs. Here, we reported an extremely rare case of multiple symmetric lipomatosis in a 46-year-old Chinese man, who has a history of heavy drinking and smoking and presented with diffuse lipomatosis and bilateral breast enlargement. Hyperuricemia and impaired glucose tolerance test were all found in this patient. A brief review of the literature was also made in this article...
May 2017: Journal of Clinical Lipidology
Ana Cláudia Cavalcante Esposito, Tania Munhoz, Luciana Patrícia Fernandes Abbade, Hélio Amante Miot
A 57-year-old female showed bulky, loose tumors, which progressively spread to her arms, anterior chest, and back. She reported dysphagia and dyspnea after mild exertion. She denied alcohol consumption. CT scan of her chest showed no internal lesions. Benign symmetric lipomatosis is a rare syndrome, clinically described as multiple nonencapsulated lipomas of various sizes and symmetrical distribution. This syndrome has three known phenotypes; in type 2 (Launois-Bensaude syndrome), lesions occur primarily on the shoulders, upper arms, and chest, and is unrelated to alcoholism...
November 2016: Anais Brasileiros de Dermatologia
Sagit Zolotov, Chao Xing, Riad Mahamid, Adel Shalata, Mohammed Sheikh-Ahmad, Abhimanyu Garg
Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old female proband and her 36-year-old brother reported marked accumulation of subcutaneous fat in the face, neck, axillae, and trunk but loss of subcutaneous fat from the lower extremities and progressive distal symmetric myopathy during adulthood...
January 2017: American Journal of Medical Genetics. Part A
Maria Giulia Cristofaro, Walter Colangeli, Umberto Riccelli, Mario Giudice
UNLABELLED: Lipomas are the most common benign soft tissue mesenchymal tumours composed of mature adipose tissue. They are uncommon in the oral and maxillofacial regions, with 15-20 % of cases involving the head and neck region and less than 5% of all benign oral lesions. Multiple symmetric lipomatosis is rare and characterized by diffuse growth and nonencapsulated lipomas. It is usually found in the posterior neck and upper trunk and they are relatively infrequent on the oral and maxillofacial regions like Madelung disease...
June 18, 2016: Annali Italiani di Chirurgia
Masanori Kudoh, Ken Omura, Arata Satsukawa, Koshi Matsumoto, Takahide Taguchi, Hiroyuki Harada, Yoshimasa Ishii
Symmetric lipomatosis is definitively characterized by symmetric, tumorous lipomatous proliferation of adipose tissue that often develops in the head and neck, shoulders, and upper trunk. However, in the oral region, symmetric lipomatosis of the tongue (SLT) is an extremely rare condition related to generalized lipidosis that is often caused by chronic alcoholism. It is characterized by multiple symmetric lipomatous nodules and diffuse bilateral swelling located within the tongue. We report an extremely rare case of SLT arising in an 80-year-old man with a long history of alcoholic liver cirrhosis...
2016: Case Reports in Otolaryngology
Mathias Tremp, Nadia Menzi, Laurent Tchang, Pietro G di Summa, Dirk J Schaefer, Daniel F Kalbermatten
OBJECTIVE: The aim of this study was to characterize adipose-derived stromal cells (ADSCs) from patients diagnosed with multiple symmetric lipomatosis (MSL) in order to obtain potentially new insights into the pathophysiology, pathogenesis and treatment of this disease. METHODS: Cells from the stromal vascular fraction were analysed by the colony-forming efficiency assay and flow cytometry using standard markers. Moreover, the power of adipogenic plasticity was evaluated...
2016: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
Lukas Prantl, Julia Schreml, Sebastian Gehmert, Silvan Klein, Xiaowen Bai, Katharina Zeitler, Stephan Schreml, Eckhard Alt, Sanga Gehmert, Oliver Felthaus
BACKGROUND: The cause of the rare fat distribution disorder multiple symmetric lipomatosis is unknown. Independent reports suggest a higher proliferative activity, hormone resistance, and involvement of mitochondrial function in the disease. METHODS: The authors performed morphologic comparison of affected and unaffected tissues in five unrelated patients and generated adipose-derived stem cell cultures from the tissue samples and characterized them as a possible cellular model of multiple symmetric lipomatosis evolution...
April 2016: Plastic and Reconstructive Surgery
Kee Hong Park, Yoon Ho Hong, Seok Jin Choi, Jung Joon Sung, Kwang Woo Lee
No abstract text is available yet for this article.
October 2015: Journal of Clinical Neurology
Munehiro Azuma, Makoto Adachi, Masayuki Motohashi, Yasunori Muramatsu
Multiple symmetric lipomatosis is rare and characterized by diffuse growth and nonencapsulated lipomas. It is usually found in the posterior neck and upper trunk, and the entity is known as "benign symmetric lipomatosis," "Madelung disease," and "Launois-Bensaude syndrome." Symmetric lipomatosis of the tongue was first described by Desmond and is an extremely rare condition. A 74-year-old man complained of painless tongue swelling and difficulty speaking. Clinical findings revealed no tumor masses on the trunk, limbs, or head and neck region...
July 2015: Journal of Clinical Lipidology
Carlotta Scarpa, Vincenzo Vindigni, Franco Bassetto
Acoustic waves are mechanical waves recently used to activate tissue metabolism by exploiting the cell permeabilization caused by their passage. We report a case of a retroauricular lipoma in a 44-year-old woman affected by multiple symmetric lipomatosis and treated with extracorporeal acoustic wave therapy. The adipose thickness of the lipoma was reduced from 35.8 to 21 mm, with increased softness at palpatory examination.
June 2015: Plastic and Reconstructive Surgery. Global Open
Ke Chen, Honghui He, Yanhong Xie, Liling Zhao, Shaoli Zhao, Xinxing Wan, Wenjun Yang, Zhaohui Mo
Multiple symmetric lipomatosis (MSL) is a rare disease characterized by symmetric and abnormal distribution of subcutaneous adipose tissue (SAT); however, the etiology is largely unknown. We report here that miR-125a-3p and miR-483-5p are upregulated in the SAT of MSL patients, promoting adipogenesis through suppressing the RhoA/ROCK1/ERK1/2 pathway. TaqMan microRNA (miR) array analysis revealed that 18 miRs were upregulated in the SAT of MSL patients. Transfection of human adipose-derived mesenchymal stem cells (hADSCs) with the individual agomirs of these 18 miRs showed that miR-125a-3p and miR-483-5p significantly promoted adipogenesis...
July 7, 2015: Scientific Reports
Sarah L Sawyer, Andy Cheuk-Him Ng, A Micheil Innes, Justin D Wagner, David A Dyment, Martine Tetreault, Jacek Majewski, Kym M Boycott, Robert A Screaton, Garth Nicholson
Multiple symmetric lipomatosis (MSL) is a mitochondrial disorder with impaired brown fat metabolism that has been associated with MERRF mutations in some, but not all, patients. We studied a sibling pair and an unrelated indiviadual who presented with MSL and neuropathy to determine the genetic etiology of this disorder in patients who did not carry the MSL-associated MERRF mutation. Whole-exome sequencing was performed on the siblings, and a rare, shared homozygous mutation in MFN2 (c.2119C>T: p.R707W) was identified...
September 15, 2015: Human Molecular Genetics
Aysenur Ozderya, Sule Temizkan, Kadriye Aydin Tezcan, Feyza Yener Ozturk, Yuksel Altuntas
UNLABELLED: Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer...
2015: Endocrinology, Diabetes & Metabolism Case Reports
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