Congenital generalized lipodystrophy

Congenital generalized lipodystrophy, also known as Berardinelli-Seip lipodystrophy, is an extremely rare autosomal recessive condition characterized by an extreme scarcity of fat in the subcutaneous tissues. It belongs to the lipodystrophy disorders, in which the magnitude of fat loss determines the severity of the metabolic complications. Only about 250 cases have been reported, and the condition is estimated to occur in 1 in 10 million people worldwide. Because fat cannot be stored in its usual places, the body stores lipid elsewhere, which is why the fuller article associates it with insulin resistance, fatty liver, muscular hypertrophy and darkened thickened skin called acanthosis nigricans. Homozygous or compound heterozygous mutations in four genes are linked to its four subtypes, the first two arising from changes in AGPAT2 and BSCL2.