A 45-year-old man presented with a 3-year history of a painless, soft, and slow-growing swelling of the neck, upper trunk, upper back, and shoulders (Panels A and B). The patient had a history of heavy alcohol consumption and was a nonsmoker. Laboratory blood analysis showed minor elevations in aspartate aminotransferase (71 U per liter), alanine aminotransferase (49 U per liter), and total cholesterol (235 mg per deciliter [6.08 mmol per liter]). Triglycerides were very elevated at 1020 mg per deciliter (11.52 mmol per liter).
Magnetic resonance imaging revealed diffuse, nonencapsulated fatty deposits in the mediastinum and in the subcutaneous and deeper fascial compartments of the neck, upper trunk, and back (Panel C, arrows). A clinical diagnosis of Madelung's disease was made.
Madelung's disease (also known as benign symmetric lipomatosis, the Launois–Bensaude syndrome, and multiple symmetric lipomatosis) is a rare disorder of unknown cause. In reported case series, up to 90% of patients have a history of chronic alcoholism, and there is a strong male predominance. Since the patient was asymptomatic, no surgical treatment was proposed. He was started on lipid-lowering therapy and referred to an alcohol detoxification program.