Congenital generalized lipodystrophy
| Congenital generalized lipodystrophy | |
|---|---|
| Specialty | Endocrinology  |
Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is a very rare autosomal recessive skin condition, characterized by an extreme paucity of fat in the subcutaneous tissues.[1] Only 250 cases of the condition have been reported, so it is estimated that it occurs in 1 in 10 million people worldwide. [2]
Presentation
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disorder associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy.[3] The condition presents itself in early childhood with accelerated linear growth , quick aging of bones, and a large appetite. As the child grows up, acanthosis nigricans will begin to present itself throughout the body - mainly in the neck, trunk, and groin. [2] The disorder also has characteristic features like hepatomegaly which arises from fatty liver and made lead to cirrhosis , muscle hypertrophy, lack of adipose tissue, splenomegaly, hirsutism and hypertriglyceridemia.[4] Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension.[5] and it is associated with metabolic syndrome. Most with the disorder also have a prominent umbilicus or frank umbilical hernia. Commonly, patients will also have an acromegaly with enlargement of the hands, feet, and jaw. [2]
Diagnosis
Medical diagnosis of BSCL can be made after observing the physical symptoms of the disease: lipoatrophy affecting the trunk, limbs, and face; hepatomegaly; acromegaloid; insulin resistance; and high serum levels of triglycerides. Genetic testing can also confirm the disease, as mutations in the AGPAT2 and BSCL2 genes are indicative of the disease. [6]
Genetics
| OMIM | Type | Gene Locus |
|---|---|---|
| Template:OMIM2 | CGL1 | AGPAT2 at 9q34.3 |
| Template:OMIM2 | CGL2 | BSCL2 at 11q13 |
| Template:OMIM2 | CGL3 | CAV1 at 7q31.1 |
| Template:OMIM2 | CGL4 | PTRF at 17q21 |
See also
External links
References
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 495. ISBN 0-7216-2921-0.
{{cite book}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ a b c Garg, A (2004). "Acquired and inherited lipodystrophies". The New England Journal Of Medicine. 350 (12): 1220–1234.
{{cite journal}}: Unknown parameter|month=ignored (help) - ^ 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) - ^ Van Maldergem, Lionel (1993). "Berardinelli-Seip Congenital Lipodystrophy". University of Washington, Seattle. Retrieved September 05, 2012.
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