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Glossary for Berardinelli-Seip congenital lipodystrophy

  • Acanthosis nigricans: It is a brown to black, poorly defined, velvety hyperpigmentation of the skin usually present in the posterior and lateral folds of the neck, the axilla, groin, umbilicus and other areas.
  • Cirrhosis of liver: Chronic liver disease wherein normal liver parenchyma is replaced by fibrous tissue.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Enlarged hands: abnormal fluid collection in the interstial tissue
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Heart conditions: Any condition that affects the heart
  • Hypertrichosis: Hypertrichosis is an overgrowth of hair not localized to the androgen-dependent areas of the skin
  • Hypertrophic cardiomyopathy: Heart damage from thickened heart walls.
  • Idiopathic liver cirrhosis: Cirrhosis is defined histologically as a diffuse hepatic process characterized by fibrosis and the conversion of normal liver architecture into structurally abnormal nodules. The progression of liver injury to cirrhosis may occur over weeks to years.
  • Large feet: Large size of the feet
  • Lawrence-Seip syndrome: Lawrence-Seip syndrome is a relatively uncommon condition involving generalized loss of skin fat that is acquired rather than congenital as in Berardinelli-Seip Syndrome. Patients can also develop diabetes mellitus and other problems. The loss of skin fat tends to occur during childhood or adolescence and is often triggered by infections such as measles and hepatitis. The diabetes tends to occur after fat loss begins. The limbs and face tend to be the most affected.
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Lipoatrophic diabetes:
  • Lipodystrophy: A rare group of disorders that can be acquired or inherited and involves adipose tissue abnormalities. The disorder is characterized by varying degrees of loss of body fat. The three forms of the condition are: total lipodystrophy, partial lipodystrophy and localized lipodystrophy.
  • Mental problems: Symptoms affecting judgement, thought or intelligence.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Miescher syndrome (2): A rare inherited disorder characterized by pigmented velvety patches of skin, excess body hair, failure to thrive, retarded growth, diabetes and facial abnormalities.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Muscular Hypertrophy: An increase in the size of the muscle cells.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.


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