congenital generalized lipodystrophy , Seip-Berardinelli congenital lipodystrophy BSCL (skrót)

It can be associated with Congenital generalized lipodystrophy type 2.

Congenital generalized lipodystrophy (Beradinelli-Seip syndrome)

Congenital generalized lipodystrophy (also known as Berardinelli-Seip syndrome) is a very rare autosomal recessive skin condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.

Congenital Generalized Lipodystrophy, also known as Berardinelli-Seip lipodystrophy was first described in 1954 by Berardinelli and later by Seip in 1959.

Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy.