| Congenital generalized lipodystrophy | |
|---|---|
| Other names | Berardinelli–Seip syndrome |
 | |
| An MRI image illustrating the lack of subcutaneous fat of a patient with the disease (G) compared to a control patient (A) | |
| Specialty | Endocrinology  |
| Symptoms | Mild specific body features, absence of subcutaneous fat, muscle hypertrophy, insulin resistance, gigantism/acromegaly, large appetite[1] |
| Complications | Heart disease, kidney failure, cirrhosis, infertility(women), |
| Usual onset | After birth |
| Types | CGL type 1, CGL type 2, CGL type 3, CGL type 4 |
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.[2] It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications.[3] Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide.[4]
- ^ "Congenital Generalized Lipodystrophy".
- ^ James, William D; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 495. ISBN 978-0-7216-2921-6.
- ^ "Lipodystrophy Disorders – Inherited Lipodystrophies – NORD Physician Guides – Rare Disease Resources for Medical Professionals". NORD Physician Guides – Rare Disease Resources for Medical Professionals. Archived from the original on 2017-03-10. Retrieved 2017-05-01.
- ^ Garg, A (Mar 2004). "Acquired and inherited lipodystrophies". The New England Journal of Medicine. 350 (12): 1220–1234. doi:10.1056/NEJMra025261. PMID 15028826.