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

Genetics

OMIM	Type	Locus
	CGL1	AGPAT2 AGPAT2 1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene.-Further reading:...  at 9q34.3
	CGL2	BSCL2 BSCL2 Seipin is a protein that in humans is encoded by the BSCL2 gene.It can be associated with Congenital generalized lipodystrophy type 2.-External links:*-Further reading:...  at 11q13
	CGL3	CAV1 at 7q31.1
	CGL4	PTRF PTRF Polymerase I and transcript release factor, also known as PTRF, is a protein which in humans is encoded by the PTRF gene.-Function:...  at 17q21

Presentation

Berardinelli-Seip congenital lipodystrophy is a rare autosomal recessive condition associating insulin resistance

Insulin resistance

Insulin resistance is a physiological condition where the natural hormone insulin becomes less effective at lowering blood sugars. The resulting increase in blood glucose may raise levels outside the normal range and cause adverse health effects, depending on dietary conditions. Certain cell types...

, absence of subcutaneous fat and muscular

Muscle

Muscle is a contractile tissue of animals and is derived from the mesodermal layer of embryonic germ cells. Muscle cells contain contractile filaments that move past each other and change the size of the cell. They are classified as skeletal, cardiac, or smooth muscles. Their function is to...

 hypertrophy

Hypertrophy

Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It should be distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number...

. With characteristic features like hepatomegaly

Hepatomegaly

Hepatomegaly is the condition of having an enlarged liver. It is a nonspecific medical sign having many causes, which can broadly be broken down into infection, direct toxicity, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass...

, accelerated growth

Human development (biology)

Human development is the process of growing to maturity. In biological terms, this entails growth from a one-celled zygote to an adult human being.- Biological development:...

, muscle

Muscle

Muscle is a contractile tissue of animals and is derived from the mesodermal layer of embryonic germ cells. Muscle cells contain contractile filaments that move past each other and change the size of the cell. They are classified as skeletal, cardiac, or smooth muscles. Their function is to...

 hypertrophy

Hypertrophy

Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It should be distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number...

, lack of adipose tissue

Adipose tissue

In histology, adipose tissue or body fat or fat depot or just fat is loose connective tissue composed of adipocytes. It is technically composed of roughly only 80% fat; fat in its solitary state exists in the liver and muscles. Adipose tissue is derived from lipoblasts...

, hirsutism

Hirsutism

Hirsutism or frazonism is the excessive hairiness on women in those parts of the body where terminal hair does not normally occur or is minimal - for example, a beard or chest hair. It refers to a male pattern of body hair and it is therefore primarily of cosmetic and psychological concern...

 and hypertriglyceridemia

Hypertriglyceridemia

In medicine, hypertriglyceridemia denotes high blood levels of triglycerides, the most abundant fatty molecule in most organisms. It has been associated with atherosclerosis, even in the absence of hypercholesterolemia . It can also lead to pancreatitis in excessive concentrations In medicine,...

. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy

Ventricular hypertrophy

Ventricular hypertrophy is the enlargement of ventricles in the heart. Although left ventricular hypertrophy is more common, enlargement can also occur in the right ventricle, or both ventricles.- Physiology :...

 and arterial hypertension

Hypertension

Hypertension or high blood pressure is a cardiac chronic medical condition in which the systemic arterial blood pressure is elevated. What that means is that the heart is having to work harder than it should to pump the blood around the body. Blood pressure involves two measurements, systolic and...

. and it is associated with metabolic syndrome

Metabolic syndrome

Metabolic syndrome is a combination of medical disorders that, when occurring together, increase the risk of developing cardiovascular disease and diabetes. It affects one in five people in the United States and prevalence increases with age...

.

See also

• Lipodystrophy
  Lipodystrophy
  Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy is used when describing the loss of fat from one area...
  
  
• Familial partial lipodystrophy
  Familial partial lipodystrophy
  Familial partial lipodystrophy is an autosomal dominant skin condition characterized by the loss of subcutaneous fat.Type 1 is believed to be underdiagnosed.- References :...
  
  
• List of cutaneous conditions
• Skin lesion

External links

• GeneReviews/NCBI/NIH/UW entry on Berardinelli-Seip Congenital Lipodystrophy