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

lipoma A lipoma is a benign tumor made of adipose tissue, fat tissue. They are generally soft to the touch, movable, and painless. They usually occur just under the skin, but occasionally may be deeper. Most are less than in size. Common locations inc ...

s, which distinguishes it from typical

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 ...

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 Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of ...

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 Pseudoathletic appearance is a medical sign meaning to have the false appearance of a well-trained athlete due to pathologic causes (disease or injury) instead of true athleticism. It is also referred to as a Herculean or bodybuilder-like ap ...

," 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 A horse collar is a part of a horse harness that is used to distribute the load around a horse's neck and shoulders when pulling a wagon or plough. The collar often supports and pads a pair of curved metal or wooden pieces, called hames, to wh ...

. Fat deposited on the back of the neck between the shoulder blades is known as a dorsocervical fat pad or

buffalo Buffalo most commonly refers to: * True buffalo or Bubalina, a subtribe of wild cattle, including most "Old World" buffalo, such as water buffalo * Bison, a genus of wild cattle, including the American buffalo * Buffalo, New York, a city in the n ...

hump. Fat deposited in the

parotid The parotid gland is a major salivary gland in many animals. In humans, the two parotid glands are present on either side of the mouth and in front of both ears. They are the largest of the salivary glands. Each parotid is wrapped around the ...

region is known as hamster cheeks.

Cause

The cause of the disease remains unknown, but its incidence strongly correlates with

alcohol use disorder Alcoholism is the continued drinking of alcohol despite it causing problems. Some definitions require evidence of dependence and withdrawal. Problematic use of alcohol has been mentioned in the earliest historical records. The World Hea ...

(over 90% of cases); in such cases, abstinence from alcohol prevents disease progression. Defects in the adrenergic-stimulated

lipolysis Lipolysis is the metabolic pathway through which lipid triglycerides are hydrolysis, hydrolyzed into a glycerol and free fatty acids. It is used to mobilize stored energy during fasting or exercise, and usually occurs in Adipose tissue, fat adip ...

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.

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 Phosphatidylcholines (PC) are a class of phospholipids that incorporate choline as a headgroup. They are a major component of biological membranes and can easily be 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 September 28, 1942) is the American author of a series of crime novels set in Venice, Italy, featuring the fictional hero Commissario Guido Brunetti. The novels are written in English and have been translated into many forei ...

'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

External links