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Description

Madelung's disease is an uncommon syndrome of symmetrical fat deposition about the upper body.


 

Typical patient:

(1) adult middle-aged male

(2) heavy user of alcohol for many years

 

An inherited form is associated with a mitochondrial gene mutation.

 

Features:

(1) The patient develops multiple symmetrical deposits of fat which may be infiltrative.

(2) The deposits are not encapsulated (lipomas are encapsulated).

(3) The deposits involve the lower face, neck, upper torso, shoulders and upper arms.

(4) The deposits are isodense with fat on imaging studies.

 

Complications may include:

(1) compression of the airway with dyspnea

(2) dysphagia

(3) limited range of motion for head and limbs

 

Differential diagnosis:

(1) pleomorphic lipoma

(2) liposarcoma

 


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