Benign symmetric lipomatosis

Medical condition

Benign symmetric lipomatosis
Other names	Benign symmetric lipomatosis of Launois–Bensaude; Madelung's disease; multiple symmetric lipomatosis; cephalothoracic lipodystrophy; symmetrical adenolipomatosis; fat neck (Fetthals)

A young man with benign symmetric lipomatosis (Madelung's disease) of unknown cause exhibiting Madelung's collar and buffalo hump
Specialty	Dermatology, endocrinology
Usual onset	Adult-onset

Benign symmetric lipomatosis, also known as Madelung's disease, is an adult-onset skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area. The symmetrical fat deposits are made of unencapsulated lipomas, which distinguishes it from typical lipomatosis which has encapsulated lipomas that are not usually symmetrical. 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.

This condition is rare, with an estimated incidence of 1 in 25,000 in Italy. Older research found that it affects males up to 15 - 30 times more frequently than females; however, more recent studies have found a higher prevalence among women than men (1:2.5) and so further epidemiological studies are needed. It predominantly affects those of the Mediterranean and European populations, although rare cases have been documented outside of those populations (such as Ethiopian, Chinese, Mexican-American, Indian, African-American, and African-Indian).

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

Comorbidities frequently involve the endocrine systems, with hypercholesterinemia and hypothyroidism being the most common. Other comorbidities include diabetes mellitus, hypertension, and gout. In individuals with alcohol use disorder, there is also alcohol-related cirrhosis of the liver. 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 as such symptoms of mitochondrial dysfunction also appear in alcoholics without Madelung's disease. However, rarely, instances of mitochondrial dysfunction (high lactate/low pyruvate, polyneuropathy, decreased cytochrome c oxidase and abnormal mitochondria) have been documented in non-alcoholics with Madelung's disease.

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). The fat deposited around the front of the neck is known as Madelung's collar or horse collar. Fat deposited on the back of the neck between the shoulder blades is known as a dorsocervical fat pad or buffalo hump. Fat deposited in the parotid region is known as hamster cheeks.

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.

Types

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

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:

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:

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.

Society

The appearance of people with the disease is depicted in:

Carvings of Queen of Punt (Egypt), as noted above
The Italian statue The Warrior of Capestrano, as noted above
Donna Leon's crime novel, Beastly Things (2012), wherein the protagonist investigates the murder of a man who had the condition, which Brunetti learns has a high incidence in Italy

References

Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
^ 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.
^ 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.
^ 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.
^ "Madelung's Disease". NORD (National Organization of Rare Disorders).
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.
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.
"Madelung's Disease with polyneuropathy in a non-alcoholic Mexican-American male". www.oatext.com. Retrieved 2023-10-22.
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)
^ 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.
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. S2CID 241472327.
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. 34 (8): 489–493. doi:10.1016/j.jcms.2006.06.003. ISSN 1010-5182. PMID 17157517.
^ 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.
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. S2CID 227182356.
^ 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. S2CID 2474345.
^ 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. S2CID 27498996.
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.
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. 113 (3): 219. doi:10.1093/qjmed/hcz160. ISSN 1460-2725. PMID 31250017.
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.
Leon, Donna (2012). Beastly Things (Commissario Brunetti, #21). Grove/Atlantic. p. 5 of Chapter 3. ISBN 978-0802120236.

External links

Classification	D ICD-10: E88.8 (ILDS E88.820) ICD-9-CM: 272.8 OMIM: 151800 MeSH: D008069

Connective/soft tissue tumors and sarcomas

Not otherwise specified

Connective tissue neoplasm

Fibromatous

Fibroma/fibrosarcoma	Dermatofibrosarcoma protuberans Desmoplastic fibroma
Fibroma/fibromatosis	Aggressive fibromatosis Aggressive infantile fibromatosis Aponeurotic fibroma Collagenous fibroma Diffuse infantile fibromatosis Familial myxovascular fibromas Fibroma of tendon sheath Fibromatosis colli Infantile digital fibromatosis Juvenile hyaline fibromatosis Plantar fibromatosis Pleomorphic fibroma Oral submucous fibrosis Pachydermodactyly
Histiocytoma/histiocytic sarcoma	Benign fibrous histiocytoma Malignant fibrous histiocytoma Atypical fibroxanthoma Solitary fibrous tumor

Synovial-like

General	Myoma/myosarcoma
Smooth muscle	Leiomyoma/leiomyosarcoma
Skeletal muscle	Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma Sarcoma botryoides Alveolar rhabdomyosarcoma
Leiomyoma Cutaneous Angioleiomyoma Angiolipoleiomyoma Genital leiomyoma Leiomyosarcoma Multiple cutaneous and uterine leiomyomatosis syndrome Multiple cutaneous leiomyoma Neural fibrolipoma Solitary cutaneous leiomyoma STUMP

Complex mixed and stromal

Mesothelial

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactyly Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Moebius syndrome Pierre Robin sequence
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Bannayan–Riley–Ruvalcaba syndrome Beckwith–Wiedemann syndrome Benign symmetric lipomatosis Klippel–Trénaunay syndrome Neurofibromatosis type I Perlman syndrome Proteus syndrome Sotos syndrome Tatton-Brown–Rahman syndrome Weaver syndrome
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

Categories:

Misplaced Pages