Barraquer-Simons syndrome

Acquired partial lipodystrophy, also called Barraquer-Simons syndrome, is characterized by upper body lipoatrophy, especially in the trunk and face, and hypertrophy of the thigh adipose tissue.

The first symptoms appear in childhood or adolescence. The face is affected first. This follows by a spread on the neck, shoulders, arms and the thorax.

Other symptoms associated with Barraquer-Simons syndrome include sensorineural hearing loss, hyperlipidemia, diabetes mellitus, glomerulonephritis, and epileptic seizures. Also, myopathy, decreased intelligence, metabolic abnormalities, and autoimmune diseases have occurred, with mesangial-capillary glomerulonephritis occurring in 30% of cases.

As a possible cause, mutations have emerged in the LMNB2 gene encoding Lamin B2. The protein is an important component of the membrane of cell nuclei. The syndrome was indicated three times more frequently in women than in men.