Madelung Disease: Multiple Symmetric Lipomatosis

Palacios, Enrique; Neitzschman, Harold R; Nguyen, Jeremy

doi:10.1177/014556131409300304

Cited by 6 publications

(8 citation statements)

References 5 publications

(9 reference statements)

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“…Although there might be a rare genetic predisposition, most cases are sporadic, with exact risk factors and pathophysiology still unknown. Current theories include an increase in lipoprotein lipase activity, reduction of adrenergic-stimulated lipolysis [14][15][16], mitochondrial DNA mutations [14,15], or sympathetic denervation of the brown fat adipocytes leading to hypertrophy [14]. It is a challenge to diagnose MSL in today's population, as it is commonly mistaken for simple obesity, as seen in the patient displayed in Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with MSL can develop functional symptoms including dysphagia, odynophagia, or hoarseness as a result of fatty deposits compressing the cervical region [13]. CT and MRI imaging have been found to be useful for evaluation of the spread of adipose tissue, tracheal compression, vasculature within the adipose mass, and exclusion of malignancy [16][17][18]. Biopsy can further confirm a suspected diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

et al. 2015

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This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

et al. 2015

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“…Multiple symmetric lipomatosis (MSL), first described in 1846 by Brodie ( 1 ), is a rare disorder characterized by aberrantly multiple, symmetric and substantial subcutaneous adipose tissue overgrowth in the face, neck, shoulders, back, chest and abdomen ( 2 , 3 ). MSL patients will present several clinical repercussions, including sleep apnea syndrome, swallowing and breathing difficulties, and polyneuropathies ( 4 , 5 ). MSL frequently occurs in men between 30 and 70 years of age with a high incidence rate of 1:25,000 in the Mediterranean region and a low rate in Asia.…”

Section: Introductionmentioning

confidence: 99%

Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis

Chen

Wang

Yang

et al. 2017

Molecular Medicine Reports

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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. cDNA libraries from these tissue specimens were constructed and DNA sequenced for identification of differentially expressed genes, which underwent bioinformatic analysis using the Gene Ontology (GO) enrichment, Kyoto Encyclopedia of Genes and Genomes (KEGG) and protein-protein interaction (PPI) network analyses. As a result, a total of 859 differentially expressed genes were identified, including 308 upregulated genes (C19orf80, Apelin, C21orf33, FAM166B and HSD11B2 were mostly upregulated 6.984-, 4.670-, 4.412-, 3.693- and 3.561-fold, respectively) and 551 downregulated genes [FosB proto-oncogene, AP-1 transcription factor subunit (FOSB), selectin (SEL) E, RAR related orphan receptor (ROR) B, salt inducible kinase (SIK)1 and epidermal growth factor-like protein (EGFL)6 were mostly downregulated −9.845, −8.243, −8.123, −7.702 and −7.664 fold, respectively). The GO functional enrichment analysis demonstrated these differentially expressed genes were predominantly involved in biological processes and cellular components, while the KEGG pathway enrichment analysis demonstrated that ribosome, non-alcoholic fatty liver disease, human T-lymphotropic virus type 1 (HTLV-I) infection and Alzheimer's disease pathways were altered in MSL. The PPI network data demonstrated ubiquitin C (UBC), translocator protein (TSPO), Jun Proto-Oncogene, AP-1 Transcription Factor (JUN) and FOS were among these differentially expressed genes that participated in regulation of adipocyte differentiation, although no previous study has linked them to MSL. In conclusion, the present study profiled differentially expressed genes in MSL and identified gene pathways that may be associated with MSL development and progression.

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“…MSL has been described in children but is commonest in middle-aged Caucasian males with a male to female ratio of 15:1 and a peak incidence between 40 and 50 years [15,16]. There is only one report of an African-American patient and therefore the incidence in Africans is largely unknown [9]. In low resource settings misdiagnosis can easily occur.…”

Section: Discussionmentioning

confidence: 99%

“…Malignant transformation is reported in the head and neck region [7]. Clinically, the condition causes apnea, obstruction of vessels and nerves, dysphagia, myopathy and reduced head and neck mobility [8,9]. Due to the unsightly gross deformities patients often experience stigma and isolation.…”

Section: Introductionmentioning

confidence: 99%

Multiple Symmetrical Lipomatosis in a 67-Year Old African Male: First Case Report within a Resource-Limited Setting

Suttels¹,

Venter²

2015

Trop Med Surg

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Introduction:Multiple Symmetrical Lipomatosis (MSL) is a progressive disease presenting with symmetrically distributed (large) lipomata over the occiput, head, neck, shoulders and trunk resulting in gross deformity. Over 90% of cases are associated with chronic alcohol abuse, and associations with metabolic disorders are also common but malignancy is rare. To date there is only one report of MSL in an African-American patient and no reported cases in Africa Case Presentation: We report the case of a 67-year old African male with a history of gout and chronic heavy drinking presenting with typical features of multiple symmetrical lipomatosis. The lipomata were successfully removed by a visiting surgical mission team. Discussion: Exact pathogenesis and incidence of MSL remain unclear. Misdiagnosis is common and diagnosis in resource-limited settings should be prompted by the history of alcohol abuse and characteristic presenting features of multiple symmetrical lipomatosis. Challenges of surgical interventions in low-resource settings are discussed.Conclusion: Clinicians should be aware of the condition and its association with metabolic disorders and rarely malignancy. In resource-limited settings, ethical and cultural factors should be considered before proceeding to surgery.

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Madelung Disease: Multiple Symmetric Lipomatosis

Cited by 6 publications

References 5 publications

Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis

Multiple Symmetrical Lipomatosis in a 67-Year Old African Male: First Case Report within a Resource-Limited Setting

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