Teaching Case

Patient complaining of severe discomfort and reduced neck mobility. He admitted 20 years of alcoholism. His body mass index was normal (25 kg/m). Endocrinology and laboratory tests were normal except for elevated GGT levels. Physical exploration showed the presence of multiple subcutaneous masses exclusively around his face, neck and shoulders.

A contrast-enhanced CT scan was performed in order to clarify the nature of these masses. Bilateral accumulation of encapsulated fatty tissue was present in the parotid, submaxillary, neck and shoulders areas. These masses were associated with mass-effect demonstrating deformation of the parotid glands shape. Especially prominent was the fatty accumulation in the nuchal area.

Multiple symmetrical lipomatosis, Launois-Bensaude syndrome or Madelung’s disease is a rare disorder characterised by prominent, unencapsulated, subcutaneous fatty tissue deposits symmetrically distributed in the face, neck, occipital fossa, shoulder areas and upper torso. It affects men between 30 and 60 years and with a history of alcohol abuse. Two types are described: Type I with circumscribed deposits around the neck showing a pseudo-athletic appearance and Type II with deposits extending over the trunk and proximal parts of the extremities giving the patients the appearance of simple obesity [1].
Diagnosis is made combining physical exploration, distribution, age, gender and history of alcohol abuse. Biopsy may confirm suspicion.
CT and MRI are indicated to evaluate the distribution of the adipose tissue and to rule out tracheal compression, mediastinal spread, vasculature within the mass and malignancy [2, 3].
They also depict the characteristic distribution of the fatty masses, which are the so called “hamster cheeks” (Fig. 1), “horse collar” (Fig. 2, 3) and “buffalo hump” (Fig. 4) when the fatty tissue distributes predominantly in the parotid, cervical and occipital regions respectively [3]. The trachea and larynx were not compromised, as shown in the coronal plane images (Fig. 3) and in the airway 3D reconstruction (Fig. 5). The tongue was spared (Fig. 1). The scan performed also facilitated a 3D reformatted image of the external and aesthetic manifestation of the subcutaneous fatty masses (Fig. 6) showing a typical pseudo-athletic appearance.
Surgery was performed and the masses extirpated.
Although benign, reduced neck mobility, tongue infiltration, compression of trachea and oesophagus, sleep apnoea, myopathy and polyneuropathy may develop during the course of the disease [2, 3]. Therefore it is more than an aesthetic problem. Malignant transformation, although described, is very rare.
Always consider Madelung’s disease when facing adult male patients with masses or swelling exclusively around the face, neck and shoulder areas, especially when a history of alcohol abuse is associated.
Imaging techniques like CT or MRI are indicated to demonstrate the fatty nature of the masses in order to confirm the diagnosis and to establish their distribution for surgical planning. They will also rule out complications such as airway obstruction and nerve or vascular entrapment.