Isolated Congenital Lower Limb Lipoatrophy: A Case Report and Literature Review

Abstract

Summary: Lipoatrophy and lipodystrophy can often be used interchangeably in the literature. However, there are some key differences. Inflammation plays a preliminary role in subcutaneous adipose tissue (SAT) loss in lipoatrophy, whereas lipodystrophy does not. There are acquired causes of SAT loss such as injurious stimuli (ie, drug injections), panniculitis, or even microtrauma. Moreover, there are congenital causes such as familial partial lipodystrophy, which follows a more localized pathology, and congenital generalized lipodystrophy, which follow a diffuse spread of SAT loss. These etiologies are further subdivided based on the mutations and clinical presentations. We present a case of a 12-year-old girl with unilateral left lower limb SAT loss since birth, without any signs of inflammation. Therefore, a diagnosis of familial partial lipodystrophy was suspected. However, genetic testing appeared unremarkable. The patient is set for conservative therapy until late adolescence for possible fat grafting.