Monday, September 10, 2007

Madelung's Disease

First described in 1888, the etiology is not know. Madelung's disease is characterized by the presence of multiple, symmetric, unencapsulated fatty accumulations involving the head and neck region and the upper trunk. The disease affects more men than women (4:1 ration), usually age 30-60 yrs of age. The patient's history often includes excessive alcohol consumption or diabetes. It is often thought of as only an aesthetic deformity, but may be associated with malignant tumors of the upper airways, hyperuricemia, obesity, renal tubular acidosis, peripheral neuropathy, and liver disease. (photo from second reference article)

The lipomatous tissue is characterized by normal-sized or smaller-than-expect fat cells. The appearance and localization of the lipomata can be variable and have been divided into 3 types by Donhauser and colleagues. More than one type may be present in a patient.

Type I: Diffuse lipomatosis of the neck (horse-collar lipomata)
Type II: Multiple symmetric lipomata of the shoulder girdle, the upper arms, the thorax, the thighs, and sometimes the abdomen which give the patients a "pseudoathletic appearance"
Type III: Preponderance of the lipomata in the thigh girth (gynecoid type)


The diagnosis is made by clinical history and physical exam. Other problems (simply obesity, sarcoma, lymphoma, etc) must be kept in mind. Currently there are no laboratory parameters specific to this condition. The lipomata of Madelung's show no tendency toward malignancy, but may cause problems (sleep apnea, tracheal obstruction, neuropathy) simply due to location and size. Patients should be advised to loose weight and abstain from alcohol. These, however, will not reverse or stop the progression of the disease once it is established.

The only effective treatment is surgical removal or liposuction, but recurrences are common. It may be difficult or impossible to completely remove the fatty areas associated with Madelung's disease as they are not encapsulated.


Also known as:

  • Adénolipomatose symétrique Launois-Bensaude (French)
  • Launois-Bensaude syndrome
  • Brodie's Syndrome II
  • Buschke’s disease
  • Buschke's syndrome II
  • Madelung-Launois-Bensaude syndrome
It should not be confused with Madelung's Deformity of the wrist which is characterized by a growth disturbance in the volar-ulnar distal radial physis that results in a volar and ulnar tilted distal radial articular surface, volar translation of the hand and wrist, and a dorsally prominent distal ulna.

References

  • Lipoma by Robert A Moraru, MD; eMedicine Article
  • Madelung's Disease in a Patient with Diabetes Mellitus by HS Dokmetas, MD and others; Skin Med, Dermatology for the Clinician, Sept/Oct 2007, Vol 6, Issue 5, pp247-249
  • Launois- Bensaude Syndrome (Madelung' s Disease); Bojanic Petar, Simovic Ivan; Dermatology Online Journal 7(2): 9
  • Head and Neck Cancers Associated with Madelung's Disease; Chan ES, Ahuja AT, King AD, Lau WY; Ann Surg Oncol, 1999 Jun; 6 (4):395-7--Abstract
  • An Unusual Entity for a Plastic Surgeon: Madelung Syndrome; Plastic & Reconstructive Surgery. 117(2):693-695, February 2006; Civelek, Birol M.D.; Celebioglu, Selim M.D.; Ozpolat, Berkant M.D.

6 comments:

Dr. Smak said...

The great thing about medicine is that there will always be something that you have never heard of.

Thanks for the lesson!

rlbates said...

I agree. There are many things to learn.

Bettina said...

I have just been diagnosed with this disease, but most of my lipomas are on the lower half of my body. I am a 59 yo WF of half Swedish and half Irish/English and Scottish descent, who is a non drinker. I also have sarcoidosis, diabetes and numerous other disorders, many of which seem to be linked to this disease. I am trying to learn as much as I can about this disease.

rlbates said...

Bettina, I'm sorry to tell you I don't know any more about this disease than is in this post. Best wishes to you.

Anonymous said...

Hello

My name is Steven. I have been diagnosed with this disease and have been carrying it for 34 years. I looked like I had three breast and muscles on top of my muscles as my daughter would say.

No doctor would touch me for the lipomas as I have hundreds.

I finally met one that would work on me. To this date I have had 236 removed by Dr Duane Barnett. He is an 84 year old surgeon that has worked on me for a decade.

I am looking for answers for this disease. I signed up for a study today. I hope to be contacted.

I allow students to watch my surgeries. Only lidocain is used as a local. I am fully awake for the surgery. I can answer students questions and let the Dr know when I really hurt.

This disease is crippling, it effects every part of your being. I hope to build answers as I have discovered I am a walking, talking artifact.

I hope more doctors will take interest in this disease.

rlbates said...

Anon (Aug 5, 2010), thanks for your comment. I wish you the best. It would be nice to have more answers about this disease.