A woman with multifocal lipodystrophy in unilateral trunk and extremities.

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.