A 63 y.o. male with a history of alcohol abuse presents with a chief complaint of arm tightness. He has noted several masses under the skin.

What could this represent?

What do you think this is?

Our patient had Madelung’s syndrome or multiple symmetric lipomatosis (MSL). It  is characterized by unchecked growth of brown fat cells.  It is thought to be a dysregulation in fat breakdown which causes a large amount of nonenveloped fatty tissue in the neck and abdomen although it can also be found in the tongue and scrotum.  The lesions are often symmetric presenting with a “horse collar” appearance that  was described in 1888 by Otto Madelung.  

the horse collar

The condition is more common in European populations and has a prevalence of 1:25,000 in Italy.  It is most common in males between the ages of  30 and 50. Chronic alcohol consumption may play a role in fat cell hyperplasia in genetically susceptible individuals.  The mechanism has yet to be elucidated but  alcohol  is thought to cause a defect of the catecholamine’s acute lipolytic action and disturb mitochondrial DNA. Familial cases with an autosomal dominant inheritance pattern have been described . 

This is distinct from corticosteroid-induced lipodystrophy  where abnormal fat distribution occurs in the facial area  (moon facies) and between the shoulders (buffalo hump).  In these cases the fat is not brown fat and it often regresses when steroids are stopped.

the buffalo hump

The fat in Madelung’s disease will continue to accumulate sometimes rapidly,  and the only treatment is surgical with lipectomy or liposuction. 

Many of the individuals with this disease have metabolic syndrome. Our patient was referred to endocrinology clinic.

FUN FACTS

Lipomas can be distinguished from Madelung’s disease because they have a capsule.

Madelung’s disease very rarely involves the face while steroids cause a “moon facies”.

 Zuber M, Pittasch D. Benign symmetric lipomatosis (Launois-Bensaude syndrome)—a rare cause of muscular weakness. Eur J Med Res. 2006;11(4):174-7.Our patient was referred to endocrinology clinic c

 Li B, Rang Z, Wng J, et al. Benign symmetric lipomatosis(Madelung’s disease with concomitant incarcerated femoral hernia: A case report. Worl J Clin Cases 2929;8(21):5474-5479. o

  Maximiano L, Gaspar M, Nakahira E. Madelung disease(multiple symmetric lipomatosis) Autops Case Rep 2018 Jul 30;8(3):e2018030