Barraquer–Simons syndrome

Barraquer–Simons syndrome is a rare form of lipodystrophy that begins in childhood. It is characterized by the loss of subcutaneous fat in the face and upper body, which often leads to an appearance of premature aging.

Symptoms

The primary symptom of Barraquer–Simons syndrome is the progressive loss of subcutaneous fat from the face and upper body. This often begins in the face and neck, and then progresses to the shoulders, arms, and chest. Other symptoms can include glaucoma, cataracts, and diabetes mellitus.

Causes

The exact cause of Barraquer–Simons syndrome is unknown. However, it is believed to be a genetic disorder, as it often runs in families. Some researchers believe that it may be caused by mutations in the AGPAT2 or BSCL2 genes, but this has not been definitively proven.

Diagnosis

Diagnosis of Barraquer–Simons syndrome is based on the characteristic symptoms and a physical examination. Genetic testing may also be performed to look for mutations in the AGPAT2 or BSCL2 genes.

Treatment

There is currently no cure for Barraquer–Simons syndrome. Treatment is focused on managing the symptoms and can include liposuction to remove excess fat, insulin therapy for diabetes, and surgery for glaucoma and cataracts.

Prognosis

The prognosis for individuals with Barraquer–Simons syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as diabetes and heart disease.

See also

• Lipodystrophy
• AGPAT2
• BSCL2

Barraquer–Simons syndrome Resources
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