BSCL
BSCL
BSCL (pronounced B-S-C-L), also known as Berardinelli-Seip Congenital Lipodystrophy is a rare genetic disorder characterized by the near total absence of adipose tissue from birth or early infancy.
Pronunciation
- BSCL: /ˈbiːˈɛsˈsiːˈɛl/
Etymology
The term BSCL is an acronym derived from the names of the two doctors who first described the condition, Dr. Waldemar Berardinelli and Dr. Martin Seip. The term Congenital Lipodystrophy refers to the disorder's primary characteristic, which is the congenital (present from birth) absence of adipose tissue (fat).
Definition
BSCL is a rare autosomal recessive disorder that is characterized by the near total absence of adipose tissue from birth or early infancy. This lack of adipose tissue leads to severe insulin resistance, hypertriglyceridemia, and early onset diabetes mellitus.
Symptoms
The symptoms of BSCL include:
- Near total absence of adipose tissue
- Severe insulin resistance
- Hypertriglyceridemia
- Early onset diabetes mellitus
- Hepatomegaly (enlarged liver)
- Acanthosis nigricans (dark, thickened skin)
Related Terms
- Adipose tissue: Body fat that provides energy storage and protection for organs.
- Insulin resistance: A condition in which the body's cells become resistant to the effects of insulin.
- Hypertriglyceridemia: A condition characterized by high levels of triglycerides in the blood.
- Diabetes mellitus: A group of diseases that result in too much sugar in the blood.
- Hepatomegaly: An enlargement of the liver beyond its normal size.
- Acanthosis nigricans: A skin condition characterized by dark, thickened skin patches.
External links
- Medical encyclopedia article on BSCL
- Wikipedia's article - BSCL
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