Multiple symmetric lipomatosis: a diagnostic dilemma

Area of Science:

• Endocrinology
• Dermatology
• Rare Diseases

Background:

• Multiple symmetric lipomatosis (Madelung's disease) is a rare condition characterized by non-encapsulated fat accumulation.
• It typically affects the neck, shoulders, and upper arms, with higher incidence in Mediterranean populations.
• The exact etiology remains unknown.

Purpose of the Study:

• To highlight the diagnostic challenges of Madelung's disease.
• To emphasize the importance of considering Madelung's disease in the differential diagnosis of neck masses.
• To discuss potential diagnostic errors, particularly in patients with a history of alcoholism.

Main Methods:

• Case presentation of a patient with Madelung's disease and a history of alcoholism.
• Review of the patient's medical history, including previous treatments and hospitalizations.
• Exclusion of other potential causes for neck enlargement, such as thyroid disease and general obesity.

Main Results:

• The patient presented with symmetric fat distribution in the neck, consistent with Madelung's disease.
• The diagnosis was initially missed despite multiple hospitalizations for alcoholism-related conditions.
• Enlarged neck adipose tissue was misattributed to obesity, and thyroid disease was ruled out.

Conclusions:

• Awareness of Madelung's disease is critical for correct diagnosis of symmetrically enlarged neck masses.
• Diagnostic errors can occur when physicians are unfamiliar with this rare condition.
• Geographic incidence and patient history, including alcoholism, should prompt consideration of Madelung's disease.