Congenital generalized lipodystrophy
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.[1]:495
Genetics
| OMIM | Type | Locus |
|---|---|---|
| 608594 | CGL1 | AGPAT2 at 9q34.3 |
| 269700 | CGL2 | BSCL2 at 11q13 |
| 612526 | CGL3 | CAV1 at 7q31.1 |
| 613327 | CGL4 | PTRF at 17q21 |
Presentation
Berardinelli-Seip congenital lipodystrophy is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy.[2] With characteristic features like hepatomegaly, accelerated growth, muscle hypertrophy, lack of adipose tissue, hirsutism and hypertriglyceridemia.[3] Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension.[4] and it is associated with metabolic syndrome.
See also
External links
References
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- ↑ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ↑ Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet. 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. PMID 19041432. Retrieved 2009-03-04.
- ↑ Gürakan F, Koçak N, Yüce A (1995). "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". Turk. J. Pediatr. 37 (3): 241–6. PMID 7502362.
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