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What caused a 55-year-old jazz musician to develop a neck mass that has been slowly expanding over the past 2 years?

The patient presented to the hospital after having increasing difficulty swallowing solid food and problems with breathing at night, according to a diagnostic puzzle detailed by Tom Thomas, MD, MPH, of Morristown Memorial Hospital in New Jersey, and Sruti Tekumalla, BA, of the Sidney Kimmel Medical College of Thomas Jefferson University in Philadelphia, in.

On intake assessment, clinicians learned that a local surgical oncologist had arrived at a working diagnosis of possible lymphoma. The patient explained that a similar mass had developed 10 years earlier that had been treated with liposuction.

He did not smoke or drink alcohol; had no family history of head and neck disease, either benign or malignant; and had no neurological deficits.

His medical history was significant for high blood pressure, coronary artery disease, and obstructive sleep apnea, and he said he did not take any steroid medications.

On examination, clinicians noted an enlarged neck mass that was larger on the right side and tense, but able to be compressed on palpation.

"Flexible fiberoptic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx," Thomas and Tekumalla wrote.

An outside CT scan revealed widespread symmetric fatty infiltration evident on the pharynx, larynx, trachea, and esophagus. "A magnetic resonance imaging scan with and without contrast showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch," the authors added.

They considered various differential diagnoses, including liposarcoma, neurofibroma, and lipomatosis -- either familial or drug-induced -- before arriving at a diagnosis of Madelung disease.

Because the mass was causing significant symptoms, the team recommended surgery -- "approached like a neck dissection," the authors noted. They excised the entire specimen and its capsule, which measured 17 × 14 × 5 cm.

Follow-up MRI performed 6 months later showed successful removal of the majority of the fat prominence.

Discussion

Madelung disease, also known as benign symmetric lipomatosis or Launois-Bensaude syndrome, is a rare disease, with only about 200 cases reported to date, Thomas and Tekumalla explained, adding that it was first characterized in 1846 and then again in 1888 and 1898.

Possible causes of the disease remain largely unknown. "It isby symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk," the case authors said. Theoretically, the disease may due to defects in mitochondrial function of adipose tissues, a decline in cytochrome C oxidase activity, or by catecholamine-induced lipolysis activity.

Madelung disease has a strong association with alcohol use and associated liver dysfunction, with both observed in approximately 90% of all those affected.

Thomas and Tekumalla speculated that this may be due to alcohol-related decreases in the amount and activity of β-adrenergic receptors, which promote fat synthesis. "It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition," the duo noted. The disease has also been associated with hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.

The case authors cited a 2013 of 22 cases, which reported the following comorbidities:

• Dyslipidemia (40.9% of patients)

• Arterial hypertension (22.7%)

• Chronic obstructive pulmonary disease (22.7%)

• Hyperuricemia (13.6%)

• Hypothyroidism (9.1%)

• Type 2 diabetes (4.5%)

• Carbohydrate intolerance (4.5%)

The case authors noted that the condition is seen most commonly in countries along the Mediterranean Sea and in men ages 30 to 60 years (affecting about 1 in 25,000), with a male-to-female ratio ranging from 15:1 to 30:1.

Madelung disease can mimic the clinical features of cancers of the head and neck. In male patients, fatty tissue is distributed primarily in the neck (83%), back (55%), upper extremities (54%), breast and abdomen (35%), and lower extremities (28%).

There are two phenotypes of Madelung disease, Thomas and Tekumalla explained: "Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions." The accumulation of fatty tissue is generally "symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue."

Madelung disease can be associated with a wide variety of symptoms, including shortness of breath, difficulty swallowing solid food, muscle weakness, and polyneuropathy, although most patients present due to concerns about the effect on their physical appearance.

"Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology," the case authors wrote. They stressed the importance of considering a differential diagnosis that "includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma."

Treatment of Madelung disease varies and is individualized to the patient, who typically present with "cosmetic deformity and signs of compression, such as dyspnea and dysphagia," Thomas and Tekumalla wrote. They noted that weight loss and changes in diet provide little benefit.

The poorly understood etiology of Madelung disease means there is little guidance regarding treatment beyond cessation of alcohol consumption prior to surgery. Conventional surgery or liposuction are the most effective approaches to addressing the compressive symptoms and cosmetic deformities. The case authors cautioned, however, that surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage, and surgical dissection can become complex.

In cases where fatty deposits have infiltrated adjacent tissue, there is a strong likelihood of recurrence, particularly following liposuction. Postsurgical recurrence rates are 63%, with treatment modality-specific rates of 51% with open surgery, 95% with liposuction, and 50% with open surgery combined with liposuction, as reported in the 2013 case review.

Thomas and Tekumalla concluded that successful surgical management can provide long-term symptom relief, although interval follow-up is important to detect rare cases of transformation of the lipomatosis to a malignant tumor.

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