Benign symmetric lipomatosis

Benign symmetric lipomatosis (BSL), also known as Madelung's disease or Launois-Bensaude syndrome, is a rare disorder characterized by the symmetric accumulation of unencapsulated fat deposits around the neck, shoulders, upper arms, and/or upper trunk. It is more commonly observed in middle-aged men, particularly those with a history of significant alcohol consumption. However, cases have been reported in women and individuals without alcohol use history. The etiology of BSL remains unclear, but it is believed to involve metabolic dysregulation, possibly linked to mitochondrial dysfunction or defects in adipocyte proliferation and differentiation.

Symptoms and Diagnosis

The primary symptom of BSL is the progressive development of painless, symmetrical lipomatous masses. These masses are typically non-tender and can vary in size. In some cases, they may cause cosmetic concerns or lead to functional impairments, such as restricted mobility or respiratory difficulties due to compression of underlying structures.

Diagnosis of BSL is primarily clinical, supported by the characteristic appearance and distribution of lipomas. Imaging studies, such as computed tomography (CT) or magnetic resonance imaging (MRI), can help delineate the extent of fat deposition and rule out other causes of similar symptoms. Biopsy may be performed to confirm the diagnosis, showing mature adipose tissue without signs of malignancy.

Treatment

There is no definitive cure for BSL. Treatment focuses on managing symptoms and improving the patient's quality of life. Options include:

• Lifestyle modifications: Reducing alcohol consumption may slow the progression of the disease.
• Surgical removal: Liposuction or surgical excision of the lipomas can be performed for cosmetic reasons or to relieve compression symptoms. However, recurrence after surgery is common.
• Medication: In some cases, medications that affect lipid metabolism have been tried, but their efficacy is uncertain.

Prognosis

The prognosis for individuals with BSL is generally good, as the condition is benign and does not affect life expectancy. However, the cosmetic and functional impairments can significantly impact the quality of life. Regular follow-up is recommended to monitor for potential complications, such as compression of vital structures or development of psychological issues related to body image.

Epidemiology

BSL is a rare condition, with a higher prevalence reported in Mediterranean and European populations. The exact incidence and prevalence are unknown due to the rarity of the disease.

See Also

• Lipoma
• Liposuction
• Metabolic syndrome