Otolaryngology–Head and Neck Surgery (2009) 141, 418-419
Madelung disease: A clinical diagnosis Yadiel A. Alameda, MD, Leonardo Torres, MD, Carlos Perez-Mitchell, MD, and Antonio Riera, MD, San Juan, Puerto Rico No sponsorships or competing interests have been disclosed for this article.
55-year-old Puerto Rican man presented to our clinic for evaluation of a large, asymptomatic, circumferential neck mass most prominent at the anterior neck. He related that the mass had been slowly enlarging over the past 15 years. His medical history was unremarkable except for alcohol use. On physical examination, there was a nontender, soft, and movable tissue proliferation involving the anterior, lateral, and posterior neck spaces (Fig 1). Identical symmetric tissue growths were noted at the supraclavicular, chest, and back areas. The rest of the physical examination was normal. The patient denied weight changes, dysphagia, hoarseness, or respiratory problems. A neck CT scan showed excessive nonencapsulated adipose tissue masses in multiple neck compartments with atrophy of adjacent muscles. The patient underwent a conservative resection of the anterior neck skin and adipose tissue superficial to the deep cervical fascia with an uneventful postoperative course. Our local institutional review board has determined that this article is not subject to their review.
DISCUSSION Madelung disease, or benign symmetric lipomatosis (BSL), is a rare, benign disorder of unknown etiology. This syndrome is characterized by multiple, symmetric, nonencapsulated, fatty accumulations diffusely involving the neck and upper trunk areas.1 More than 90 percent of BSL cases occur in middle-aged alcoholic men.2 Men of Mediterranean lineage are also frequently affected. The pathogenesis of this disorder is unclear. Postulated etiologies include abnormal proliferation of brown fat cells and mitochondrial mutations. In those patients with alcohol abuse, it is believed that alcohol leads to adipocyte hyperplasia by its effect on lipogenesis, antilipolysis, and reduction of lipid oxidation.3 BSL is usually asymptomatic. The associated cosmetic deformity is the most common complaint of those patients who visit a physician. However, some patients report diminished cervical range of motion, dysphagia, hoarseness, sleep problems, and respiratory complications because of aerodigestive tract compression.4
Anterior view photograph.
The principal diagnostic tools are an accurate history and physical examination. Imaging studies such as a CT scan and MRI show the nonencapsulated, fatty masses and their areas of distribution. Fine-needle aspiration biopsy is usually unnecessary. Surgery is the most effective treatment, especially for those with aesthetic deformity and/or significant compression of the aerodigestive tract.3 Conservative excision, including conservative neck dissection,5 preserving important anatomic structures is recommended because these nonencapsulated tumors usually infiltrate adjacent tissues. This latter characteristic makes complete surgical removal challenging, with a high propensity for local recurrence. Conservative management is based on alcohol abstinence, weight loss, and correction of any associated metabolic/endocrine abnormalities.
AUTHOR INFORMATION From the Department of Otolaryngology–Head and Neck Surgery, University of Puerto Rico. Corresponding author: Yadiel A. Alameda, MD, Department of Otolaryngology–Head and Neck Surgery, Medical Science Campus, PO Box 365067, San Juan, PR 00936-5067. E-mail address: [email protected]
Received January 27, 2009; revised April 8, 2009; accepted April 15, 2009.
0194-5998/$36.00 © 2009 American Academy of Otolaryngology–Head and Neck Surgery Foundation. All rights reserved. doi:10.1016/j.otohns.2009.04.018
Alameda et al
Madelung disease: A clinical diagnosis
Yadiel A. Alameda, design, writing, surgery; Leonardo Torres, revision, surgery; Carlos Perez-Mitchell, design, revision; Antonio Riera, revision, surgery.
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DISCLOSURES Competing interests: None. Sponsorships: None.