Zhang Ying, Zhu Mingqin, Li Xiaozhen, Miao Jing, Duan Chenchen, Cui Li, Yu Xuefan
Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Xinmin, Changchun, China Department of Neurobiology, Care Sciences & Society, Division of Clinical Geriatrics, Karolinska Institutet, Huddinge, Stockholm, Sweden.
Medicine (Baltimore). 2016 Nov;95(47):e5390. doi: 10.1097/MD.0000000000005390.
Progressive hemifacial atrophy (PHA) is a rare disorder characterized by unilateral facial atrophy affecting the skin, subcutaneous tissue, and fat, muscle, and osteocartilagenous structures creating a sunken hemiface appearance.Etiopathogenesis of PHA is poorly understood; no definitive treatment is currently available.
We report a 41-year-old woman with PHA who showed an uncharacteristic "relapsing-remitting" evolution of brain lesions and was seropositive for hepatitis B virus (HBV). She presented with a history of recurrent tonic-clonic seizures. Magnetic resonance imaging (MRI) showed progressive atrophy and multiple white matter lesions in the left side of the brain. Interestingly, the serial MRI examination (4 MRI scans over a period of 9 years) showed a "relapsing-remitting" pattern of brain lesions akin to that observed in a subtype of multiple sclerosis. Autoimmune-related investigations revealed increased serum levels of immunoglobulin (Ig) G, anti-nuclear antibody (ANA), and γ-IgG. Infection is considered as one of the possible causes of PHA. However, the association of peripheral infection such as HBV infection with PHA has not been reported.
Our experience with this case suggests that PHA may have a relapsing-remitting disease course. Autoimmune inflammatory response to chronic HBV infection may have triggered the relapse in this case. This case underlines a novel etiopathogenetic mechanism of PHA.
进行性半侧面部萎缩（PHA）是一种罕见的疾病，其特征为单侧面部萎缩，累及皮肤、皮下组织、脂肪、肌肉以及骨软骨结构，导致半侧面部出现凹陷外观。PHA的病因发病机制尚不清楚；目前尚无确切的治疗方法。
我们报告了一名41岁患有PHA的女性，其脑部病变呈现出非典型的“复发-缓解”演变过程，且乙肝病毒（HBV）血清学检测呈阳性。她有反复强直阵挛发作的病史。磁共振成像（MRI）显示脑部左侧出现进行性萎缩和多个白质病变。有趣的是，系列MRI检查（9年间进行了4次MRI扫描）显示脑部病变呈现出“复发-缓解”模式，类似于在一种多发性硬化亚型中观察到的情况。自身免疫相关检查显示血清免疫球蛋白（Ig）G、抗核抗体（ANA）和γ-IgG水平升高。感染被认为是PHA可能病因之一。然而，外周感染如HBV感染与PHA的关联尚未见报道。
我们对该病例的经验表明，PHA可能有复发-缓解的病程。慢性HBV感染引发的自身免疫炎症反应可能在此病例中触发了病情复发。该病例突显了PHA一种新的病因发病机制。
