Congenital generalized lipodystrophy

Congenital generalized lipodystrophy
Congenital generalized lipodystrophy
Classification and external resources
eMedicine article/1113171

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



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


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


  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ Viégas RF, Diniz RV, Viégas TM, Lira EB, Almeida DR (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. PMID 11018810.