AI Article Synopsis

  • Adipose dystrophy (lipodystrophy) involves the loss of fat tissue, potentially causing fat to accumulate in other body areas and leading to metabolic issues like insulin resistance and liver disease.
  • The condition is linked to several gene mutations and can be either congenital or acquired, presenting in different forms.
  • This report details a rare case of localized lipodystrophy with normal development and partial fat atrophy, aimed at improving clinicians' knowledge of this uncommon disease.

Article Abstract

Adipose dystrophy, also known as lipodystrophy, is a heterogeneous disease characterized by the complete or partial loss of adipose tissue. In some cases, patients with lipodystrophy may exhibit fat accumulation in other areas of the body, as well as metabolic abnormalities such as insulin resistance, hyperlipidemia, liver disease, and increased metabolic rate. The condition may also be associated with gene mutations, including those in acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2), caveolin-1 (CAV1), polymerase I and transcript release factor (PTRF), lamins A (LMNA), zinc metalloproteinase (ZMPSTE24), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2), perilipin 1 (PLIN1), and proteasome subunit, β-type, 8 (PSMB8). Lipodystrophy can be either congenital or acquired, and it may present as a systemic or localized condition. In this report, we describe a rare case of localized lipodystrophy characterized normal development and partial multifocal fat atrophy. This case aims to enhance clinicians' understanding of the clinical manifestation of this uncommon disease.

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