title: Multiple symmetric lipomatosis: a rare disease and its possible links to brown adipose tissue.
abstract: OBJECTIVE
  Aim of this study is an updated review of our case series (72 patients) as well as available literature on the Multiple Symmetric Lipomatosis (MSL), a rare disease primarily involving adipose tissue, characterized by the presence of not encapsulated fat masses, symmetrically disposed at characteristic body sites (neck, trunk, proximal parts of upper and lower limbs).
  
  
  RESULTS
  The disease is more frequent in males, associated to an elevated chronic alcohol consumption, mainly in form of red wine. Familiarity has been reported and MSL is considered an autosomic dominant inherited disease. MSL is associated to severe clinical complications, represented by occupation of the mediastinum by lipomatous tissue with a mediastinal syndrome and by the presence of a somatic and autonomic neuropathies. Hyper-alphalipoproteinemia with an increased adipose tissue lipoprotein-lipase activity, a defect of adrenergic stimulated lipolysis and a reduction of mitochondrial enzymes have been described. The localization of lipomatous masses suggests that MSL lipomas could originate from brown adipose tissue (BAT). Moreover, studies on cultured pre-adipocytes demonstrate that these cells synthetize the mitochondrial inner membrane protein UCP-1, the selective marker of BAT. Surgical removal of lipomatous tissue is to date the only validated therapeutic approach.
  
  
  CONCLUSIONS
  MSL is supposed to be the result of a disorder of the proliferation and differentiation of human BAT cells.
authors.affiliation: Department of Medicine, University of Padua, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Enzi
authors.affiliation: Department of Medicine, University of Padua, Italy. Electronic address: luca.busetto@unipd.it.
authors.forename: L
authors.initials: L
authors.lastname: Busetto
authors.affiliation: Department of Medicine, University of Padua, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Sergi
authors.affiliation: Department of Medicine, University of Padua, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Coin
authors.affiliation: Department of Medicine, University of Padua, Italy.
authors.forename: E M
authors.initials: EM
authors.lastname: Inelmen
authors.affiliation: Institute of Plastic Surgery, University of Padua, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Vindigni
authors.affiliation: Institute of Plastic Surgery, University of Padua, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Bassetto
authors.affiliation: Department of Experimental and Clinical Medicine & Diagnostic Electron Microscopy, United Hospitals, University of Ancona (Politecnico delle Marche), Italy.
authors.forename: S
authors.initials: S
authors.lastname: Cinti
mesh_terms: D017667:Adipocytes / Q000187:drug effects / Q000473:pathology; D002001:Adipose Tissue, Brown / Q000503:physiopathology*; D000437:Alcoholism / Q000150:complications / Q000473:pathology*; D001786:Blood Glucose / Q000378:metabolism; D001823:Body Composition; D015992:Body Mass Index; D002454:Cell Differentiation; D002460:Cell Line; D049109:Cell Proliferation; D053480:Cholesterol Ester Transfer Proteins / Q000172:deficiency; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004734:Energy Metabolism; D006801:Humans; D007473:Ion Channels / Q000235:genetics / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000503:physiopathology; D008069:Lipomatosis, Multiple Symmetrical / Q000150:complications / Q000473:pathology*; D008071:Lipoprotein Lipase / Q000378:metabolism; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics / Q000378:metabolism; D035583:Rare Diseases; D014280:Triglycerides / Q000097:blood; D000071256:Uncoupling Protein 1; D014920:Wine
chemical_list: D001786:Blood Glucose; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D007473:Ion Channels; D024101:Mitochondrial Proteins; D014280:Triglycerides; C000604371:UCP1 protein, human; D000071256:Uncoupling Protein 1; D008071:Lipoprotein Lipase
keywords: Brown adipose tissue; Hyper-alpha-lipoproteinemia; Lipomatosis; Lipoprotein-lipase; Rare diseases; UCP 1