Congenital generalized lipodystrophy: Difference between revisions
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'''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]].<ref name="Andrews">{{cite book |author=James, William D.; Berger, Timothy G.; et al. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages= |isbn=0-7216-2921-0 |oclc= |doi= |accessdate=}}</ref>{{rp|495}} |
'''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]].<ref name="Andrews">{{cite book |author=James, William D.; Berger, Timothy G.; et al. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages= |isbn=0-7216-2921-0 |oclc= |doi= |accessdate=}}</ref>{{rp|495}} |
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'''Berardinelli-Seip congenital lipodystrophy''' abbreviated as ('''BSCL''') is a rare [[autosomal recessive]] condition associating [[insulin resistance]], absence of [[subcutaneous fat]] and [[muscle|muscular]] [[hypertrophy]].<ref name="pmid19041432">{{cite journal |author=Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G |title=Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation |journal=[[Eur J Med Genet]] |volume=52 |issue=1 |pages=14–6 |year=2009 |pmid=19041432 |doi=10.1016/j.ejmg.2008.10.006 |url=http://linkinghub.elsevier.com/retrieve/pii/S1769-7212(08)00140-7 |issn= |accessdate=2009-03-04}}</ref>With characteristic features like [[hepatomegaly]], accelerated [[growth]], [[muscle]] [[hypertrophy]], lack of [[adipose tissue]], [[hirsutism]] and [[hypertriglyceridemia]].<ref name="pmid7502362">{{cite journal |author=Gürakan F, Koçak N, Yüce A |title=Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings |journal=[[Turk. J. Pediatr.]] |volume=37 |issue=3 |pages=241–6 |year=1995 |pmid=7502362 |doi= |url= |issn= |accessdate=2009-03-04}}</ref>Common [[cardiovascular]] alterations related to this syndrome are [[Ventricular hypertrophy|cardiac hypertrophy]] and [[arterial]] [[hypertension]].<ref name="pmid11018810">{{cite journal |author=Viégas RF, Diniz RV, Viégas TM, Lira EB, Almeida DR |title=Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome) |journal=[[Arq. Bras. Cardiol.]] |volume=75 |issue=3 |pages=243–8 |year=2000 |month=September |pmid=11018810 |doi= |url=http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2000000900006&lng=en&nrm=iso&tlng=en |issn=}}</ref> and it is associated with [[metabolic syndrome]]. |
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== See also == |
== See also == |
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Revision as of 22:49, 7 August 2009
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
Berardinelli-Seip congenital lipodystrophy abbreviated as (BSCL) 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
References
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
{{cite book}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}:|access-date=requires|url=(help)CS1 maint: multiple names: authors list (link) - ^ Viégas RF, Diniz RV, Viégas TM, Lira EB, Almeida DR (2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. PMID 11018810.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
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