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Genetic and Rare Diseases Information Center (GARD)

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Madelung disease


Other Names for this Disease
  • Benign symmetrical lipomatosis
  • Cephalothoracic lipodystrophy
  • Familial benign cervical lipomatosis
  • Familial symmetric lipomatosis
  • Launois-Bensaude lipomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk.[1] It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person.[2] Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain.[3] The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances.[2] The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism.[3] Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol.[2]
Last updated: 11/19/2014

References

  1. Madelung's Disease. NORD. April 1, 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/778/viewAbstract.
  2. Ramos S, Pinheiro S, Diogo C, Cabral L, Cruzeiro C. Madelung disease: a not-so-rare disorder. Ann Plast Surg. January 2010; 64(1):122-124.
  3. Marie-Christine Vantyghem. Familial symmetric lipomatosis. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2398. Accessed 6/28/2013.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Madelung disease have been answered. See questions and answers . You can also submit a new question.

Basic Information

  • The Cushing's Help and Support has created an information page on Madelung disease. To view the information page, click on the link.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Madelung disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Benign symmetrical lipomatosis
  • Cephalothoracic lipodystrophy
  • Familial benign cervical lipomatosis
  • Familial symmetric lipomatosis
  • Launois-Bensaude lipomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.