Lonchampt F, Blanc D, Terrasse F, Humbert P, Kienzler J L, Agache P
Ann Dermatol Venereol. 1985;112(1):35-9.
The authors report a case of Weber-Christian disease associated with familial alpha-1-antitrypsin deficiency in a 47-year-old woman. The serum alpha-1-antitrypsin level is low and the phenotype is Pi ZZ. The histological picture was consistent with Weber-Christian panniculitis, showing foci of fat cell necrosis with lipophagic granuloma and fibrosis. The same biological trait also exists in the propositus' sister who developed emphysema without cutaneous involvement. The pathogenesis probably rests on a particular reactivity to microtraumata with exacerbation of local inflammatory events due to a partial deficient control of proteolytic activity. The prognosis of the disease varies from a chronic recurrent process to a short fulminant course with possible fatal outcome. The treatment is at the present time ill-codified and any how only symptomatic. In this case, the propositus responded well to a high dose regimen of corticosteroids, 100 mg daily, but relapsed as the treatment was reduced to 50 mg daily.
作者报告了一例47岁女性患有的与家族性α-1抗胰蛋白酶缺乏症相关的韦氏-克里斯蒂安病。血清α-1抗胰蛋白酶水平较低，表型为Pi ZZ。组织学表现与韦氏-克里斯蒂安脂膜炎一致，显示脂肪细胞坏死灶伴有噬脂性肉芽肿和纤维化。先证者的姐姐也存在相同的生物学特征，她患有肺气肿但无皮肤受累。发病机制可能在于对微创伤的特殊反应性，由于蛋白水解活性的部分控制不足而导致局部炎症事件加重。该疾病的预后从慢性复发过程到短期暴发性病程不等，可能导致致命后果。目前治疗方法尚未规范，无论如何都只是对症治疗。在该病例中，先证者对每日100毫克的高剂量皮质类固醇治疗方案反应良好，但当治疗减至每日50毫克时复发。
