IMAJ • VOL 12 • april 2010 Case Communications

Madelung’s Disease Meirav Sokolov MD1, David Mendes MD2 and Dov Ophir MD1

Departments of 1Otolaryngology and 2Plastic Surgery, Meir Medical Center, Kfar Saba and Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel

viously and had progressively enlarged. Bensaude syndrome, is a rare disorder. Key words: benign symmetrical lipomatosis, The patient had no history of dyspnea It was first described by Sir Benjamin Madelung’s disease, Launois- or dysphagia. He denied any associated Brodie In 1846. Madelung described Bensaude syndrome pain or discomfort and stated that his the first series of 35 cases in 1888, and IMAJ 2010; 12: 253–254 main concern was cosmetic. Launois and Bensaude presented a larger Physical examination revealed ex- series of 65 patients in 1898. Since then, treme enlargement of the submandibu- approximately 200 cases have been pub- adelung’s disease is a rare condition lar, parotid, cervical, and nuchal regions, lished in the medical literature [1]. M whose pathophysiology is poorly bilaterally. The masses were freely mov- This rare condition is characterized understood. It is characterized by massive able, painless, and non-tender [Figure A]. by the presence of multiple symmetric, fatty deposits distributed in a symmetric Cardiovascular, respiratory and neuro- non-encapsulated fatty deposits (unlike pattern mainly in the face, neck, and nape logic examinations were unremarkable. the usual lipoma), distributed in a sym- of the neck. It usually affects middle-aged Laboratory results, including com- metric pattern in the face, neck and the men with chronic alcohol abuse. The plete blood count, liver function tests, superior part of the trunk, and rarely condition does not spontaneously regress electrolytes, fasting lipid profile, fast- in the lower limbs, mediastinum and and it may cause serious clinical, aesthetic ing glucose, and kidney function tests larynx. The tumor masses are soft and and psychological dysfunction. We pres- were within normal limits. Serology for usually asymptomatic. Although benign ent a patient with Madelung’s disease in human immunodeficiency virus anti- in nature, cases of deep infiltration of order to familiarize the physician with bodies was negative. mediastinal structures with compression this unusual condition. Cervical ultrasonography revealed bi- of major vessels, nerves, trachea, lar- lateral fatty accumulations in the cervical ynx, bronchi, and esophagus have been and submandibular regions. Computed reported [2]. Involvement of the tongue Patient Description tomography scan showed extensive fatty has also been noted [3]. A 37 year old man with a history of accumulations in the cervical and upper Middle-aged men with a history of alcohol abuse and heavy smoking was thoracic region with no mediastinal excessive alcohol intake are affected admitted with bilateral thickening and involvement or blood vessel dislocation more frequently. The general incidence enlargement of the neck, nuchal region [Figure B]. is unknown, but the prevalence may and upper arms that began 3 years pre- Fine-needle aspiration showed non- be higher in Mediterranean countries, specific fibro-adipose tissue. Subcutan- notably Italy, Spain and France. Fatty accumulation in the cervical and nucchal areas eous fat tissue biopsy obtained from the Two types of Madelung’s disease left lateral nuchal region showed normal have been described. In type 1 disease, fat tissue without malignant changes. fat accumulates around the neck and A definitive diagnosis of Madelung’s the nape of the neck, shoulders, upper disease was made on the basis of the arms, and upper back, giving the patient patient’s medical history of alcoholism, a ‘‘pseudoathletic’’ appearance. In type 2 increased fatty tissue accumulation, and disease, lipomas extend over the body, histologic examination. The patient was including around the hips and thighs taken to surgery and the deep and superfi- giving the patient a generalized obese cial fatty masses of the neck were excised. appearance [3]. B The cause of Madelung’s disease is unknown. Many hypotheses have been Comment proposed. Kodish et al. [4] suggested that A Madelung’s disease, also known as benign the excess lipid accumulation results from symmetric lipomatosis and Launois- hypertrophy of functionally defective

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brown adipose tissue. The distribution of distribution pattern of the masses that aesthetic deformities, psychological prob- the fat masses and the ultrastructure of do not recede even with reduced calorie lems, or aerodigestive dysfunction the adipose cells of the lipomas support intake. Massive symmetric deposition of attributable to compression by fatty tis- this hypothesis. There is also increasing fat becomes cosmetically deforming in sue. Recurrence of the lipomas is com- evidence that various mitochondrial the parotid region (“hamster cheeks”), mon. Medical treatment is not effective. dysfunctions underlie Madelung’s cervical region (“horse collar”), and pos- Lipectomy and liposuction are the treat- disease. This hypothesis suggests that terior neck (“buffalo hump”) [5]. ments of choice. Liposuction is a safe and reduced activity of the mitochondrial Computed tomography and mag- easy method. It can be performed safely respiratory enzymes might depress the netic resonance imaging are helpful in under local anesthesia, but it can be diffi- lipolytic pathway. A familial form with assessing the distribution of excess fat. cult in patients whose fatty tumors have a mitochondrial DNA abnormality has Sonography does not provide adequate a fibrous stroma. Open excision is more also been reported. preoperative information. Histologically, effective for patients with severe cosmetic Alcohol seems to act as a cofactor, as cells in the abnormal lipomatous areas deformities. It is also safer because nerves 60–90% of Madelung’s disease patients are indistinguishable from those in nor- and major vessels can be identified. The are chronic alcoholics. Chronic alcohol mal fat, although ultrastructural investi- risk of postoperative hematoma has been ingestion is known to promote lipogen- gations have shown that the adipocytes reported by many authors, emphasizing esis and decrease lipolysis. In addition, are smaller than expected and multi- the need for careful hemostasis and alcohol is known to affect mitochon- vacuolated [1]. vacuum drains [2]. drial metabolism directly and can cause It is important to consider other premature oxidative aging of mtDNA. entities such as “simple” truncal obesity, Correspondence: However, patients with Madelung’s dis- angiolipoma, neurofibroma, encapsu- Dr. M. Sokolov ease and no history of alcohol consump- lated lipomas, hibernoma, congenital in- Dept. of Otolaryngology, Meir Medical Center, Kfar Saba 44821, Israel tion have also been reported [2]. filtrating lipomatosis of the face, en- Phone: (972-9) 747-2150 Besides a strong association with cephalo-craniocutaneous lipomatosis, email: [email protected] chronic alcoholism, frequently associ- liposarcoma, lipoblastomatosis, and sali- ated findings include metabolic diseases vary gland disorders in the differential References like diabetes mellitus, lipid disorders, diagnosis [3]. The lipomatosis observed 1. Meningaud JP, Pitak-Arnnop P, Bertrand JC. and systemic disorders such as liver dis- in HIV-infected patients is also a differ- Multiple symmetric lipomatosis: case report and review of the literature. J Oral Maxillofac Surg ease and hypothyroidism [5]. Sensory, ential diagnosis, thought to be related to 2007; 65: 1365-9. motor and autonomic polyneuropathy the use of protease inhibitors [1]. 2. Gonzalez-Garcıa R, Rodrıguez-Campo FJ, Sastre- is noted in about 85% of patients, 80% of The clinical course of the disease Perez J, Munoz-Guerra MF. Benign symmetric lipomatosis (Madelung’s disease): case reports whom will develop a physical disability. involves an initial period of fast growth and current management. Aesthetic Plast Surg The polyneuropathy occurs several years followed by many years of slow progres- 2004; 28: 108-12. after the lipomas appear. Histologic sion. There is no report of spontaneous 3. Lopez-Ceres A, Aguilar-Lizarralde Y, Villalobos studies show progressive axonal atrophy, regression after cessation of alcohol Sanchez A, Prieto Sanchez E, Valiente Alvarez A. Benign symmetric lipomatosis of the tongue which is in contrast to the demyelina- consumption. Malignant transforma- in Madelung’s disease. J Craniomaxillofac Surg tion and axonal degeneration produced tion is extremely rare; only one case of 2006; 34: 489-93. by chronic alcohol intake [1]. malignant degeneration was reported in 4. Kodish ME, Alsever RN, Block MB. Benign symmetric lipomatosis: functional sympathetic The diagnosis of Madelung’s disease the literature [5]. denervation of adipose tissue and ossible is primarily established by physical The treatment for Madelung’s disease hypertrophy of brown fat. Metabolism 1974; 23: examination and clinical history. The is surgery. It is reserved for patients with 937-45. 5. Josephson GD, Sclafani AP, Stern J. Benign disorder can be defined as a “sight diag- symmetric lipomatosis (Madelung's disease). nosis” disease because of the typical HIV = human immunodeficiency virus Otolaryngol Head Neck Surg 1996; 115: 170-1.

“There is a crack in everything. That's how the light gets in” Leonard Cohen (born 1934), Canadian singer-songwriter, musician, poet and novelist. His work explores religion, isolation, and inter- personal relationships. Famously reclusive, having once spent several years in a Zen Buddhist monastery, and possessing a persona frequently associated with mystique, he is extremely well regarded by critics for his literary accomplishments, for the richness of his lyrics, and for producing an output of work of high artistic quality over a five-decade career.

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