Benign symmetric lipomatosis

Benign symmetric lipomatosis is an adult-onset skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area.[1] The fat deposited around the front of the neck is known as Madelung's collar or horse collar.[2][3] Fat deposited on the back of the neck between the shoulder blades is known as a dorsocervical fat pad or buffalo hump.[2][4] Benjamin Brodie described the condition in 1846. The German surgeon Otto Wilhelm Madelung was the first to give a detailed description of the disorder in 1888, followed by Launois and Bensaude in 1898.[5]

Benign symmetric lipomatosis
Other namesBenign symmetric lipomatosis of Launois–Bensaude, Madelung's disease, multiple symmetric lipomatosis, cephalothoracic lipodystrophy, symmetrical adenolipomatosis
A young man with benign symmetric lipomatosis (Madelung's disease) of unknown cause exhibiting Madelung's collar and buffalo hump
SpecialtyDermatology, endocrinology
Usual onsetAdult-onset

This condition is rare, with an estimated incidence of 1 in 25,000 in Italy.[5][6] Older research found that it affects males up to 15 - 30 times more frequently than females;[5][6] however, more recent studies have found a higher prevalence among women than men (1:2.5) and so further epidemiological studies are needed.[6] It predominantly affects those of the Mediterranean and European populations, although rare cases have been documented outside of those populations.[3][7][8][9][10][11][12]

Large fat deposits around the neck, and more rarely in the tongue, may negatively affect breathing, swallowing, and speaking.[13][14] Orbital involvement is very rare, with proptosis (bulging of the eye) and persistent bilateral lumps on the eyelids.[2][15]

Comorbidities frequently involve the endocrine systems, with hypercholesterinemia and hypothyroidism being the most common.[2][6] Other comorbidities include diabetes mellitus, hypertension, and gout.[3][6] In individuals with alcohol use disorder, there is also alcohol-related cirrhosis of the liver.[3][6] There have also been reports of peripheral neuropathy, ragged red fibres in muscle cells (suggesting mitochondrial myopathy), sudden cardiac death, and neurological involvement, although it is unknown whether these are due to prolonged alcohol use disorder.[3][6][16][17]

Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a "pseudoathletic appearance," resembling the Italian statue Warrior of Capestrano and carvings of Queen of Punt (Egypt).[12][18] The symmetrical fat deposits are made of unencapsulated lipomas, which distinguishes it from typical lipomatosis which has encapsulated lipomas that are not usually symmetrical.[10]

Cause

The cause of the disease remains unknown, but its incidence strongly correlates with alcohol use disorder (over 90% of cases); in such cases, abstinence from alcohol prevents disease progression. Defects in the adrenergic-stimulated lipolysis and accumulation of embryological brown fat have also been reported.[12]

Types

Earlier, the disease was classified by G. Enzi and others into two types:[6]

  • Type I: neck (Madelung’s collar/horse collar), shoulders, supraclavicular triangle, and proximal upper limbs.
  • Type II: abdomen and thighs.

In 1991, Donhauser classified the disease into four types, which subsequently became a commonly accepted classification:[6]

  • Type I (Madelung's collar/horse collar): neck, upper back, shoulder girdle, and upper arms.
  • Type II (pseudoathletic type): shoulder girdle, deltoid region, upper arms, and thorax.
  • Type III (gynecoid type): lower body, especially the thighs and medial side of the knees.
  • Type IV (abdominal type): abdomen.

In 2018, a new classification was proposed, as most of the patients in the largest German study of that time did not reliably fit into the Donhauser classification system. Schiltz and others at the University Hospital Regensburg proposed the disease to be classified into five types:[6]

  • Type I (Upper body)
    • Ia: neck.
    • Ib: neck, shoulder girdle, and upper arms.
    • Ic: neck, shoulder girdle, upper arms, and trunk.
  • Type II (Lower body): hips, buttocks, and thighs.
  • Type III (Upper and lower body): general distribution, without involvement of head, forearms, and calves.

Treatment

Traditionally the treatment is mainly surgical, consisting of the removal of the lipomas (lipectomy), although recent study has proposed liposuction and phosphatidylcholine injection as possible alternatives.[19]

Society

The appearance of people with the disease is depicted in:

See also

References
  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. Şükün, Abdullah; Demirci, Mehmet Fatih; Akbay, Ertan (June 2023). "Type 1C Multiple Symmetrical Lipomatosis: A Cause of Misdiagnosis in Females". Cureus. 15 (6): e40970. doi:10.7759/cureus.40970. ISSN 2168-8184. PMC 10370365. PMID 37503462.
  3. "Madelung's Disease". NORD (National Organization of Rare Disorders).
  4. Liu, S -Z; Zhou, X; Wang, Y -P; Liu, Y; Song, A (2019-06-26). "The Madelung's disease and the buffalo hump sign". QJM: An International Journal of Medicine. doi:10.1093/qjmed/hcz160. ISSN 1460-2725.
  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 (2): 108–12, discussion 113. doi:10.1007/s00266-004-3123-5. PMID 15164232. S2CID 45300059.
  6. Schiltz, Daniel; Anker, Alexandra; Ortner, Christine; Tschernitz, Sebastian; Koller, Michael; Klein, Silvan; Felthaus, Oliver; Schreml, Julia; Schreml, Stephan; Prantl, Lukas (April 2018). "Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort". Plastic and Reconstructive Surgery. Global Open. 6 (4): e1722. doi:10.1097/GOX.0000000000001722. ISSN 2169-7574. PMC 5977945. PMID 29876171.
  7. Zewde, Yared Zenebe (2021-07-03). "Madelung's disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report". BMC Endocrine Disorders. 21 (1): 142. doi:10.1186/s12902-021-00803-9. ISSN 1472-6823. PMC 8254943. PMID 34217263.
  8. Wanke, Jin; Yongjing, Fan (February 2022). "A case report of Madelung's disease in China". Radiology Case Reports. 17 (2): 320–325. doi:10.1016/j.radcr.2021.10.035. ISSN 1930-0433. PMC 8633830. PMID 34876958.
  9. "Madelung's Disease with polyneuropathy in a non-alcoholic Mexican-American male". www.oatext.com. Retrieved 2023-10-22.
  10. Suresh Chandran, C. J.; Godge, Y. R.; Oak, P. J.; Ravat, S. H. (April 2009). "Madelung's disease with myopathy". Annals of Indian Academy of Neurology. 12 (2): 131–132. doi:10.4103/0972-2327.53086. ISSN 1998-3549. PMC 2812741. PMID 20142863.
  11. Sarhill, N.; Kumar, Ajay; Cook, L.; Tahir, A.; Barakat, K. (2006). "Madelung's Disease in an African-American Patient". S2CID 78759779. {{cite journal}}: Cite journal requires |journal= (help)
  12. Medappil Noushif; Vasu TA (July 2010). "Madelung's disease: A spot diagnosis". Indian J Plast Surg. 43 (2): 227–8. doi:10.4103/0970-0358.73472. PMC 3010793. PMID 21217991.
  13. Louza, Guilherme Felix; Zanetti, Gláucia; Marchiori, Edson (August 2022). "Madelung's Disease: A Rare Cause of Dyspnea". Archivos de Bronconeumologia. 58 (8): 612. doi:10.1016/j.arbres.2021.09.015. ISSN 1579-2129. PMID 35312558.
  14. Lopez-Ceres, Ana; Aguilar-Lizarralde, Yolanda; Villalobos Sánchez, Aurora; Prieto Sánchez, Elisa; Valiente Alvarez, Antonio (December 2006). "Benign symmetric lipomatosis of the tongue in Madelung's disease". Journal of Cranio-Maxillo-Facial Surgery: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery. 34 (8): 489–493. doi:10.1016/j.jcms.2006.06.003. ISSN 1010-5182. PMID 17157517.
  15. Lumyongsatien, Mingkwan; Selva, Dinesh (April 2022). "Bilateral symmetric lipomatosis of the orbit in Madelung's disease". Orbit (Amsterdam, Netherlands). 41 (2): 268–270. doi:10.1080/01676830.2020.1852261. ISSN 1744-5108. PMID 33243058.
  16. Klopstock, T.; Naumann, M.; Schalke, B.; Bischof, F.; Seibel, P.; Kottlors, M.; Eckert, P.; Reiners, K.; Toyka, K. V.; Reichmann, H. (May 1994). "Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA". Neurology. 44 (5): 862–866. doi:10.1212/wnl.44.5.862. ISSN 0028-3878. PMID 8190288.
  17. Naumann, M.; Schalke, B.; Klopstock, T.; Reichmann, H.; Lange, K. W.; Wiesbeck, G.; Toyka, K. V.; Reiners, K. (July 1995). "Neurological multisystem manifestation in multiple symmetric lipomatosis: a clinical and electrophysiological study". Muscle & Nerve. 18 (7): 693–698. doi:10.1002/mus.880180704. ISSN 0148-639X. PMID 7783758.
  18. Miraglia, E.; Moliterni, E.; Iacovino, C.; Chello, C.; Laghi, A.; Giustini, S. (2021-05-05). "Madelung's disease. Two case reports with pseudoathletic appearance". La Clinica Terapeutica. 172 (3): 190–192. doi:10.7417/CT.2021.2311. ISSN 1972-6007. PMID 33956034.
  19. Hasegawa T, Matsukura T, Ikeda S (June 2009). "Mesotherapy for Benign Symmetric Lipomatosis". Aesthetic Plast Surg. 34 (2): 153–6. doi:10.1007/s00266-009-9374-4. PMID 19488808. S2CID 1678529.
  20. Leon, Donna (2012). Beastly Things (Commissario Brunetti, #21). Grove/Atlantic. p. 5 of Chapter 3. ISBN 978-0802120236.
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