Alhusain Abdullah M, Alrodiman Osama A, Alfaqeeh Faisal A, Alissa Sami I
From the Plastic and Reconstructive Surgery Division, Surgery Department, Ministry of National Guards Health Affairs, King Abdullah Children's Specialist Hospital, Riyadh, Saudi Arabia.
College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Plast Reconstr Surg Glob Open. 2023 Aug 29;11(8):e5222. doi: 10.1097/GOX.0000000000005222. eCollection 2023 Aug.
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.
脂肪萎缩和脂肪代谢障碍在文献中常常可以互换使用。然而，它们存在一些关键差异。炎症在脂肪萎缩中皮下脂肪组织（SAT）的丢失过程中起初步作用，而脂肪代谢障碍则不然。SAT丢失存在后天性原因，如有害刺激（即药物注射）、脂膜炎，甚至微创伤。此外，还有先天性原因，如家族性部分脂肪代谢障碍，其病理表现更为局限，以及先天性全身性脂肪代谢障碍，其SAT丢失呈弥漫性分布。这些病因根据突变情况和临床表现进一步细分。我们报告一例12岁女孩，自出生以来左侧下肢单侧SAT缺失，无任何炎症迹象。因此，怀疑为家族性部分脂肪代谢障碍。然而，基因检测结果无明显异常。该患者将接受保守治疗，直至青春期后期考虑可能的脂肪移植。
