Multiple symmetrical lipomatosis

Multiple Symmetrical Lipomatosis
Synonyms	Madelung's disease, Launois-Bensaude syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Symmetrical fatty deposits, mainly in the neck, shoulders, and upper arms
Complications	Respiratory issues, sleep apnea, neuropathy
Onset	Typically in adulthood
Duration	Chronic
Types	N/A
Causes	Unknown, possibly genetic and environmental factors
Risks	Alcoholism, metabolic disorders
Diagnosis	Clinical examination, imaging studies
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgical removal, lifestyle changes
Medication	N/A
Prognosis	Variable, depends on severity and treatment
Frequency	Rare
Deaths	N/A

Multiple Symmetrical Lipomatosis (MSL), also known as Madelung's disease or Launois-Bensaude syndrome, is a rare disorder characterized by the growth of unencapsulated, symmetrical fatty deposits. These deposits are primarily located in the neck, shoulders, and upper arms.

Epidemiology

MSL is a rare condition with a higher prevalence in Mediterranean populations. It predominantly affects middle-aged men, with a male-to-female ratio of approximately 15:1. The exact incidence is unknown, but it is considered a rare disease.

Etiology

The exact cause of MSL is not well understood. However, it is believed to involve a combination of genetic and environmental factors. There is a strong association with alcoholism, and some studies suggest a link with mitochondrial DNA mutations. Other potential risk factors include metabolic disorders such as dyslipidemia and diabetes mellitus.

Pathophysiology

The pathophysiology of MSL involves the abnormal proliferation of adipose tissue. Unlike typical lipomas, the fatty deposits in MSL are not encapsulated and are diffusely distributed. The condition is thought to result from a defect in the regulation of lipid metabolism, possibly involving mitochondrial dysfunction.

Clinical Presentation

Patients with MSL typically present with symmetrical, non-tender fatty masses. These masses are most commonly found in the cervical region, giving a characteristic "horse collar" appearance. Other common sites include the upper back, arms, and thighs.

Symptoms

- Symmetrical fatty deposits - Limited range of motion - Cosmetic concerns - Possible respiratory issues due to compression of the airway - Sleep apnea - Peripheral neuropathy

Diagnosis

The diagnosis of MSL is primarily clinical, based on the characteristic distribution of fatty deposits. Imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) can be used to assess the extent of the disease and to differentiate MSL from other conditions such as liposarcoma.

Differential Diagnosis

- Lipoma - Liposarcoma - Dercum's disease - Familial multiple lipomatosis

Management

There is no definitive cure for MSL, and management focuses on symptomatic relief and cosmetic improvement.

Surgical Treatment

- Liposuction: Often used to remove excess fat deposits. - Surgical excision: May be necessary for larger masses or when liposuction is insufficient.

Non-Surgical Treatment

- Lifestyle modifications: Reducing alcohol intake and managing metabolic disorders. - Physical therapy: To improve mobility and function.

Prognosis

The prognosis of MSL varies. While the condition is benign, it can lead to significant cosmetic and functional impairment. The risk of recurrence after surgical treatment is high, and ongoing management may be necessary.

Complications

- Respiratory distress - Obstructive sleep apnea - Peripheral neuropathy

See Also

- Lipomatosis - Adipose tissue - Metabolic syndrome

External Links

• [Link to a relevant medical resource]