Madelung’s disease: a man with a phenotype suggestive of anabolic steroid use

Abstract

Madelung’s disease (MD), a rare disorder of adipose tissue, is characterized by multiple, symmetrical, non-encapsulated adipose tissue depositions in typical locations. MD typically affects middle-aged males of Mediterranean and Eastern European origin. The pathophysiology remains unknown, yet chronic alcohol consumption is frequently reported and features of metabolic syndrome are usually present. Most cases are sporadic and patients may report symptoms of compression (dysphagia, hoarseness) and/or present with a characteristic phenotypic appearance. Herein, we present a case of a 70-year-old man with a 20-year history of recurrent lipomatous formations, who had undergone several surgical procedures. His past medical and family history were unremarkable, biochemistry analysis and endocrine workup were normal, previous pathology results were indicative of benign lipomas and he reported chronic alcohol consumption. This otherwise asymptomatic patient had a very remarkable “pseudoathletic appearance”, reminiscent of anabolic steroid use. On the basis of past medical history, laboratory workup and clinical appearance, the diagnosis of MD was made and the patient was referred to the Plastic Surgery Department for further evaluation and treatment.

Keywords

• madelung’s disease
• benign symmetrical lipomatosis
• multiple symmetrical lipomatosis
• launois-bensaude syndrome
• lipomatosis
• alcoholism