partial acquired lipodystrophy (Barraquer-Simons syndrome)
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Epidemiology
- rare
- childhood disease
- females > males
Genetics
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
More general terms
References
- ↑ NEJM Knowledge+ Endocrinology
- ↑ Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004 Mar 18;350(12):1220-34. PMID: https://www.ncbi.nlm.nih.gov/pubmed/15028826 Review. https://www.nejm.org/doi/pdf/10.1056/NEJMra025261
- ↑ OMIM https://mirror.omim.org/entry/608709