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Madelung's disease is an extremely rare disorder of unknown etiology characterized by multiple, non-encapsulated, infiltrative lipomas located symmetrically on the trunk, neck, and proximal parts of the limbs. Approximately 200 patients have been reported in the medical literature. In this case report we present an extremely unusual case of multiple symmetric lipomatosis compatible with Madelung's disease.
Madelung's disease, also known as Multiple Symmetric Lipomatosis or Launois-Bensaude Syndrome, is an extremely rare disorder of unknown etiology characterized by multiple, non-encapsulated, infiltrative lipomas located symmetrically on the trunk, neck, and proximal parts of the limbs (1). It was first described in 1846. Since then approximately 200 patients have been reported in the medical literature (1, 9, 11). Although the pathogenesis of lipoma formation in Madelung's disease remains unclear, hypothesis suggest this is a mitochondrial DNA disorder, though the etiology still remain obscure (2-4). Most affected patients are middle-aged males with a history of chronic alcoholism. There is a predilection for people from the Mediterranean with the higher incidence in Italy (5).
We report a case of a 61-year-old-man with a medical history of chronic alcoholism that presented a right lower extremity ulcer and incidental finding of multiples masses in his cervico-facial, nuchal and thoracic regions that gradually enlarged over a period of six years.
This is a 61-year-old-man with past medical history of chronic alcoholism for the last forty years, arterial hypertension and cervical and thoracic masses for the last six years. Independent in all activities of daily living until a month ago when he developed a gradually worsening right lower extremity ulcer. Patient denied fever, chills, weight loss, night sweats, anorexia, nauseas, vomiting, diarrheas, shortness of breath, chest pain or palpitations.
Upon physical examination in the cervical region, neck and thorax, large palpable bilateral masses were palpable. The masses were soft, with no definite margin, and movable; there was no tenderness on palpation or associated erythema (see Figure 1). In addition, a right medial tibia stasis ulcer was observed. Routine laboratories were within normal limits. An MRI of the head and neck had the following findings: multiple symmetric lipomatosis predominantly from C4-C7; the airway was patent, and no nodular enhancing components suggesting a liposarcoma (see Figures 2 and and3).3). Pathology of biopsy of the neck mass disclosed hemorrhagic, fibroconnective tissue and adipose tissue, with associated lipodystrophy (see Figure 4).
Reports of Madelung's disease are very rare. To the best of our knowledge, no cases have been reported in the Hispanic population or in the Caribbean. The etiology of Madelung's disease is still obscure. Although, is well known that the disorder predominantly affects white males (M:F ratio 15:1), with the incidence being highest in the Mediterranean and Italy (10). Predominantly manifests itself in the third to fifth decade of life with history of alcoholism up to 90% of the cases (6-8). The disease usually has biphasic course, an initial rapid growth that is followed by a slow progressive phase (10).
Madelung's disease is classified in two types of lipomatosis, which is based on the distribution of fat deposits. Circumscribed masses of fatty tumors in type 1 protrude from an otherwise lean body while the lipomatous tissue in type 2 diffuses extensively into the subcutaneous fat layer (11).
The symptoms are primarily those of disfigurement, although the patient may complain of interference with neck motion, difficulty in obtaining a proper fit with clothing, or in some cases respiratory difficulties (9). The fat deposits, once present, never disappear spontaneously, and the disease is usually progressive over a period of years (9). Mediastinal involvement with tracheal and vena cava compression is possible. The gastrointestinal tract may be compressed in advanced cases, causing dyspnea and dysphagia. Massive symmetric deposition of fat leads to cosmetic deformities in the parotid region (“hamster cheeks”), cervical region (“horse collar”) and posterior neck (“buffalo hump”) (4). In this case report, our patient was asymptomatic, however, upon physical examination, hamster cheeks, horse collar and buffalo hump were evident.
Diagnosis is usually made by history and physical examination. Computed tomography, MRI and fine needle aspiration cytology establishes the diagnosis. There has been only one reported case of malignant transformation in Madelung's disease. Literature described the development of a liposarcoma(5-6). However, reports also state an association with malignant tumors of the digestive tract (carcinoma of the pharynx and ceccal tumors). This was confirmed later by the literature that reported an increased incidence of carcinoma of the tongue and pharynx in patients with Madelung's disease. Thus, a thorough evaluation to rule out synchronous malignancy in patients with Madelung's disease is mandatory (9). This can be problematic because of difficulties in distinguishing between lipoma and well-differentiated liposarcoma. In our case report, the pathology biopsy ruled out the possibility of malignancy such as a liposarcoma.
There is no consensus on disease management or therapy. Reducing alcohol consumption is recommended (7). Surgery or lipid-lowering therapy may be recommended in the presence of symptomatic lipomas (8). For cosmetic reason, lipomatosis in Madelung's disease can be removed by surgical excision or by liposuction techniques (12). Complete surgical removal of the tumor may jeopardize important anatomic structures because the lipomas can infiltrate or encase these structures.
According to one report, Madelung's disease was treated successfully with the beta 2-agonist salbutamol, which acts on lipolysis via adrenergic stimulation. In our case report no action in management was taken considering that the patient was asymptomatic.
To the best of our knowledge the occurrence of Madelung's disease in our patient may indicate that the disease may no longer be solely associated with Caucasian Mediterranean men and there are very few cases reported in Asia. Physicians in Puerto Rico should be aware of this rare entity in alcoholic patients.