Madelung disease

Clinical History

A 66-year-old man presented with symmetrical tumefaction involving the shoulder girdles, neck and facial area.
He has a history of moderate alcohol consumption.
Paratracheal lipoma excision was performed years ago because of dyspnoea.
He has no other relevant medical history.

Imaging Findings

X-ray shows an increase of soft tissues involving the upper chest (Fig. 1).
CT and MRI reveals multiple and symmetric fatty accumulations affecting the shoulder girdles, the neck and the malar region (Fig. 2-6).

Discussion

Madelung disease (Benign symmetric lipomatosis) is a rare and benign lipodystrophic disease of unknown origin characterised by the presence of multiple, symmetric, non-encapsulated fatty accumulations usually involving the cervical and upper dorsal regions of the trunk [1].
It was first described by Benjamin Brodie (1846). The typical horse collar distribution of this entity was described by Otto W. Madelung in a series of patients with this disease in 1888. Launois and Bensaude completed the description of the syndrome in 1898 [2].

Although the aetiology remains unknown, approximately 60 - 90% of patients present a previous history of moderate to severe alcoholism. Several reports have described mitochondria DNA mutations in up to 30% of patients [3].
Two clinical phenotypes have been described [4]:
Type 1: Middle-aged patients (30 to 60 years) with a male to female ratio of 15:1 to 30:1. High association with alcoholism (60%–90% of cases) and most commonly seen in the Mediterranean population. This type presents a characteristic distribution around the neck and shoulder girdles.
Type II: Both sexes. Massive fat deposits with a female fat distribution (upper back, shoulder region and arms, hips and proximal thigh region saving the distal parts). This distribution sometimes is difficult to discriminate from obesity.

The diagnosis is usually made by clinical history, physical examination and imaging techniques.
They show massive symmetric accumulations of fat in the cervical region (horse collar), malar region and upper chest.

Treatment when necessary is surgical resection. It is indicated when there are compression syndromes (trachea, oesophagus, superior vena cava...) or aesthetic deformities [5-7].
Clinical management involves abstinence from alcohol; however, there is only a slight regression of lipomatous deposits [2, 8]

Differential Diagnosis List

Final Diagnosis

Madelung disease type I.

URL:	https://www.eurorad.org/case/10297
DOI:	10.1594/EURORAD/CASE.10297
ISSN:	1563-4086