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partial acquired lipodystrophy (Barraquer-Simons syndrome)
Epidemiology:
- rare
- childhood disease
- females > males
Genetics:
- sporadic disorder
- associated with defects in LMNB2
Clinical manifestations:
- generally before puberty, as early as 10 years of age (5 & 15 years)
- loss of subcutaneous fat from the face, neck & trunk
- fat deposition on the pelvic girdle (hips, buttocks) & lower limbs is normal or excessive
- some show no other abnormality
- many develop glomerulonephritis, diabetes mellitus, hyperlipidaemia, & complement deficiency
- mental retardation in some cases
Complications:
- infrequently associated with diabetes mellitus or dyslipidemia
Differential diagnosis:
- lipodytrophy associated with HIV1 antiretroviral therapy
Management:
- no specific treatment
General
lipodystrophy; lipoatrophy
Database Correlations
OMIM 608709
References
- NEJM Knowledge+ Endocrinology
- Garg A.
Acquired and inherited lipodystrophies.
N Engl J Med. 2004 Mar 18;350(12):1220-34.
PMID: 15028826 Review.
https://www.nejm.org/doi/pdf/10.1056/NEJMra025261
- OMIM :accession 608709