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Multiple symmetric lipomatosis as a genetic disorder: a review

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Abstract

Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the presence of multiple, symmetric nonencapsulated fat masses in the face, neck, and other areas. The typical presentation of MSL consists of massive lipomatous deposits around the neck which has given rise to the classic description of a buffalo hump or horse collar. The etiology is unknown although autosomal dominant or mitochondrial inheritance has been postulated based on several affected families and tissue studies. We reviewed the current literature and present a 43-year-old male with a circumferential neck mass composed of multiple nonencapsulated lipomas. His family history is unique with eight family members over three generations.

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References

  1. Ramos S, Pinheiro S, Diogo C, Cabral L, Cruzeiro C (2010) Madelung disease: a not-so-rare disorder. Ann Plast Surg 64:122–124

    Article  PubMed  CAS  Google Scholar 

  2. Gologorsky Y, Gologorsky D, Yarygina AS, Surti U, Zirwas MJ (2007) Familial multiple lipomatosis: report of a new family. Cutis 79:227–232

    PubMed  Google Scholar 

  3. Meningaud JP, Pitak-Arnnop P, Bertrand JC (2007) Multiple symmetric lipomatosis: case report and review of the literature. J Oral Maxillofac Surg 65:1365–1369

    Article  PubMed  Google Scholar 

  4. Verhelle NA, Nizet JL, Van den Hof B, Guelinckx P, Heymans O (2003) Liposuction in benign symmetric lipomatosis: sense or senseless? Aesthetic Plast Surg 27:319–321

    Article  PubMed  Google Scholar 

  5. González-García R, Rodríguez-Campo FJ, Sastre-Pérez J, Muñoz-Guerra MF (2004) Benign symmetric lipomatosis (Madelung's disease): case reports and current management. Aesthetic Plast Surg 28:108–112

    Article  PubMed  Google Scholar 

  6. Verna G, Kefalas N, Boriani F, Carlucci S, Choc I, Bocchiotti MA (2008) Launois-Bensaude Syndrome: an unusual localization of obesity disease. Obes Surg 18:1313–1317

    Article  PubMed  Google Scholar 

  7. Klopstock T, Naumann M, Schalke B, Bischof F, Seibel P, Kottlors M, Eckert P, Reiners K, Toyka KV, Reichmann H (1994) Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. Neurology 44:862–866

    Article  PubMed  CAS  Google Scholar 

  8. Chong PST, Vucic S, Hedley-Whyte ET et al (2003) Multiple symmetric lipomatosis (Madelung's disease) caused by the MERRF(A8344G) mutation: a report of two cases and review of the literature. J Clin Neuromusc Dis 5:1–7

    Article  Google Scholar 

  9. Gdynia HJ, Sperfeld AD, Knirsch U, Homberg V, Rosenbohm A, Müller-Höcker J, Ludolph AC, Hanemann CO (2006) Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions. Eur J Med Res 14:545–546

    Google Scholar 

  10. Muñoz-Málaga A, Bautista J, Salazar JA, Aguilera I, Garcia R, Chinchon I, Segura MD, Campos Y, Arenas J (2000) Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy? Muscle Nerve 23:538–542

    Article  PubMed  Google Scholar 

  11. Matthews PM, Squier MV, Chalk C, Donaghy M (1995) Mitochondrial abnormalities are not invariably present in neurologic syndromes associated with multiple symmetric lipomatosis. Neurology 45:197–198

    Article  PubMed  CAS  Google Scholar 

  12. Campos Y, Martín MA, Navarro C, Gordo P, Arenas J (1996) Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis. Neurology 47:1012–1014

    Article  PubMed  CAS  Google Scholar 

  13. Kodish ME, Alsever RN, Block MB (1974) Benign symmetric lipomatosis: functional sympathetic denervation of adipose tissue and possible hypertrophy of brown fat. Metabolism 23:937–945

    Article  PubMed  CAS  Google Scholar 

  14. Gámez J, Playán A, Andreu AL, Bruno C, Navarro C, Cervera C, Arbós MA, Schwartz S, Enriquez JA, Montoya J (1998) Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. Neurology 51:258–260

    Article  PubMed  Google Scholar 

  15. Finnilä S (2000) Phylogeneticc analysis of mitochondrial DNA: detection of mutations in patients with occipital stroke. Dissertation, University of Oulu

  16. Coin A, Enzi G, Bussolotto M, Ceschin E, Difito M, Angelini C (2000) Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction. J Clin Neuromuscul Dis 1:124–130

    Article  PubMed  CAS  Google Scholar 

  17. Nisoli E, Regianini L, Briscini L, Bulbarelli A, Busetto L, Coin A, Enzi G, Carruba MO (2002) Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. J Pathol 198:378–387

    Article  PubMed  CAS  Google Scholar 

  18. Vilà MR, Gámez J, Solano A, Playán A, Schwartz S, Santorelli FM, Cervera C, Casali C, Montoya J, Villarroya F (2000) Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations. Biochem Biophys Res Commun 278:800–802

    Article  PubMed  Google Scholar 

  19. Mancuso M, Bianchi MC, Santorelli FM, Tessa A, Casali C, Murri L, Siciliano G (1999) Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. J Neurol 246:1197–1198

    Article  PubMed  CAS  Google Scholar 

  20. Klopstock T, Naumann M, Seibel P et al (1997) Mitochondrial DNA mutations in multiple symmetric lipomatosis. Mol Cell Biochem 174:271–275

    Article  PubMed  CAS  Google Scholar 

  21. Kratz C, Lenard HG, Ruzicka T, Gartner J (2000) Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Eur J Paediatr Neurol 4:63–67

    Article  PubMed  CAS  Google Scholar 

  22. Shetty C, Avinash KR, Auluck A, Mupparapu M (2007) Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation. Dentomaxillofac Radiol 36:51–54

    Article  PubMed  CAS  Google Scholar 

  23. Zhang XY, Li NY, Xiao WL (2008) Madelung disease: manifestations of CT and MR imaging. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 105:e57–e64

    Article  PubMed  Google Scholar 

  24. Tizian C, Berger A, Vykoupil KF (1983) Malignant degeneration in Madelung's disease (benign lipomatosis of the neck): case report. Br J Plast Surg 36:187–189

    Article  PubMed  CAS  Google Scholar 

  25. Raguse J-D, Menneking H, Klein M, Bier J (2004) Benign symmetric lipomatosis (Madelung's disease) complicated by involvement of the facial nerve. Eur J Plast Surg 27:306–308

    Article  Google Scholar 

  26. Grolleau JL, Soulie M, Dodart L, Costagliola M (1997) Scrotal location of Madelung's disease. Eur J Plast Surg 20:280–281

    Article  Google Scholar 

  27. Lee DH, Lim SC, Lee JK (2001) Laryngeal involvement in Madelung Disease. Otolaryngol Head Neck Surg 144:481–482

    Article  Google Scholar 

  28. Laure B, Sury F, Tayeb T, Corre P, Goga D (2011) Launois-Bensaude syndrome involving the orbits. J Craniomaxillofac Surg 39:21–23

    Article  PubMed  Google Scholar 

  29. Naumann M, Kiefer R, Toyka KV, Sommer C, Seibel P, Reichmann H (1997) Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis. Muscle Nerve 20:833–839

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Alex Bryan Olsen.

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Olsen, A.B., Grebe, T.A. & Joganic, E. Multiple symmetric lipomatosis as a genetic disorder: a review. Eur J Plast Surg 35, 413–419 (2012). https://doi.org/10.1007/s00238-012-0697-z

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  • DOI: https://doi.org/10.1007/s00238-012-0697-z

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