Madelung's disease and alcoholic liver disorder†
Authors: Mei‐Ju Ko, Hsien‐Ching Chiu
Journal: Hepatology (2009)

A 53-year-old man presented with a 4-month history of multiple subcutaneous tumors on his head, neck, and upper trunk. He drank more than 1 L of rice wine per day, beginning at age 16. Multiple ill-defined, variously sized tumors were noted on the scalp, neck, shoulders, and upper trunk (Fig. 1). The largest, 28 cm in length, was seen on the posterior neck and upper back (Fig. 2). These tumors were elastic firm on palpation and showed no symptoms and signs of inflammation. Laboratory analyses revealed elevated aspartate aminotransferase, 83 U/L (<31); elevated alanine aminotransferase, 43 U/L (<31); and elevated serum bilirubin level, 1.8 mg/dL (0.2–1.0). The complete blood count with differential, blood glucose, and renal function tests were all unremarkable. Serologic tests ruled out viral hepatitis. Abdominal ultrasonography revealed fatty liver but no other abnormalities. Alcoholic liver disease was diagnosed. Skin biopsy and computed tomography of the tumors showed prominent fatty tissue (Fig. 3). Multiple variously sized subcutaneous tumors on the scalp, neck, shoulders, and upper trunk. The largest tumor, measuring 28 cm in the longest dimension, is present on the posterior neck and upper back. Mature adipose tissue with abundant fibrous bands. (hematoxylin & eosin stain; magnification ×200) These symmetrically distributed fatty tumors on the back, suboccipital region, and proximal extremities, with a characteristic "horse-collar" appearance, are typical of Madelung disease (benign symmetric lipomatosis), a rare disorder that usually affects middle-aged alcoholic men. The differential diagnosis includes Cushing's syndrome, familial multiple lipomatosis, Dercum's disease, and congenital lipomatosis. Madelung disease predominantly affects men between the ages of 30 and 60 years.1 The diagnosis is primarily dependent on clinical history and characteristic appearance. The masses are nonencapsulated, infiltrative, hypervascular. They can eventually reach very large sizes, diminish the range of motion of the neck and upper extremities, and even result in dysphagia or dyspnea.1 There is a strong correlation with alcohol abuse and liver disease.2, 3 Diabetes, polyneuropathy, hypothyroidism, and hyperlipidemia have also been reported to be associated.2, 3 However, the etiology is still not clearly known. Several cases with A8344G (adenine-to-guanine substitution at position 8344) mutation of mitochondrial DNA have been reported.4 A defect in respiratory chain of adipocytes could cause accumulation of fatty acid because lipolysis and fatty acid beta-oxidation requires a supply of adenosine triphosphate. Acting as a concomitant or triggering factor, alcohol may induce a dysfunction of the mitochondria, resulting in an abnormal resistance of the fat tissue to lipolysis, with the consequent formation of the masses.4, 5 The only effective therapy is surgical removal of the masses. Liposuction can be performed in patients with masses of limited sizes.3 The patient's appearance was improved by cosmetic surgery. Abstinence from alcohol is also recommended.