Benign symmetric lipomatosis is a skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area.
The German surgeon
Otto Wilhelm Madelung
Otto Wilhelm Madelung (May 15, 1846 – July 22, 1926) was a German surgeon who was a native of Gotha
Gotha () is the fifth-largest city in Thuringia, Germany, west of Erfurt and east of Eisenach with a population of 44,000. The city is the c ...
was the first to give a detailed description of the disorder. This condition is very rare, with an estimated
incidence of 1 in 25,000, and affects males up to 30 times more frequently than females.
Cause
The cause of the disease remains unknown, but its incidence strongly correlates with
alcohol use disorder
Alcoholism is, broadly, any drinking of alcohol that results in significant mental or physical health problems. Because there is disagreement on the definition of the word ''alcoholism'', it is not a recognized diagnostic entity. Predomin ...
; abstinence from alcohol prevents disease progression. Defects in the adrenergic-stimulated
lipolysis
Lipolysis is the metabolic pathway through which lipid triglycerides are hydrolyzed into a glycerol and free fatty acids. It is used to mobilize stored energy during fasting or exercise, and usually occurs in fat adipocytes. The most important ...
and accumulation of embryological
brown fat
Brown adipose tissue (BAT) or brown fat makes up the adipose organ together with white adipose tissue (or white fat). Brown adipose tissue is found in almost all mammals.
Classification of brown fat refers to two distinct cell populations with si ...
have also been reported. Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a "pseudoathletic appearance", resembling the Italian statue ''
Warrior of Capestrano
''The Warrior of Capestrano'' is a tall limestone statue of a Picentes, Picene warrior, dated to around the 6th century BC. The statue stands at around 2.09 m. It was discovered accidentally in 1934 by a laborer ploughing the field in the Italian ...
'' and carvings of
Queen of Punt (Egypt).
Treatment
Traditionally the treatment is mainly surgical, consisting of the removal of the lipomas, although recent study has proposed liposuction and
phosphatidylcholine
Phosphatidylcholines (PC) are a class of phospholipids that incorporate choline as a headgroup.
They are a major component of biological membranes and can be easily obtained from a variety of readily available sources, such as egg yolk or soyb ...
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
Donna Leon (; born in Montclair, New Jersey) is the American author of a series of crime novels set in Venice, Italy, featuring the fictional hero Commissario Guido Brunetti. In 2003, she received the Corine Literature Prize.
Leon lived in Veni ...
'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
See also
*
Lipomatosis
Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders. In 1993, a gene ...
*
List of skin conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
*
Madelung's deformity
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral (in both wrists) or just in the one wrist.
It has only been recognized within the pa ...
References
External links
Conditions of the subcutaneous fat
Rare diseases
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