Barraquer–Simons syndrome

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Barraquer–Simons syndrome (pronounced: ba-ra-ker si-mons sin-drome) is a rare form of lipodystrophy that is characterized by the progressive loss of subcutaneous fat from the face and upper body. This condition is also known as acquired partial lipodystrophy or cephalothoracic lipodystrophy.

Etymology

The syndrome is named after the Spanish ophthalmologist Jose Barraquer Roviralta and the Dutch physician Cor Simons, who independently described the condition in the early 20th century.

Symptoms

The main symptom of Barraquer–Simons syndrome is the gradual loss of subcutaneous fat from the face, neck, shoulders, arms, and upper torso. This can lead to a distinctive facial appearance with prominent veins, muscles, and bones. Other symptoms can include insulin resistance, diabetes, and kidney disease. Some people with the syndrome may also develop autoimmune diseases.

Diagnosis

Diagnosis of Barraquer–Simons syndrome is based on the characteristic physical findings and a detailed patient history. Genetic testing may also be performed to rule out other forms of lipodystrophy.

Treatment

There is currently no cure for Barraquer–Simons syndrome. Treatment is focused on managing the symptoms and preventing complications. This may include medication to control diabetes and kidney disease, and cosmetic surgery to improve the appearance of the face and upper body.

See also

External links

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