Severe dyspnea as atypical presenting symptom of Madelungs disease

摘要

Madelung's disease (benign symmetrical lipomatosis) is a rare disease of unknown etiology manifesting as symmetric abnormal deposits of adipose tissue in the head, neck and upper trunk. We report a case of a 58-year-old man with a long lasting Madelungs disease in whom progressive fatty tissue accumulation caused a severe inspiratory dyspnea as atypical presenting symptom. The etiopathogenetic, clinico-diagnostic and therapeutic aspects of this rare disease are discussed. Due to its progressive but not so easily predictable enlarging behavior Madelung's disease has not only aesthetic but also functional and sometimes life threatening consequences which need to be treated.