Laureano André, Carvalho Rodrigo, Chaveiro Alexandra, Cardoso Jorge
Hospital de Curry Cabral - Centro Hospitalar de Lisboa Central, Lisboa, Portugal.
Dermatol Online J. 2014 Jan 15;20(1):21245.
Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. Less than 60 cases have been reported, mostly in the homozygous PiZZ variant. We report the case of a 55-year old woman with A1AT panniculitis associated with the heterozygous phenotype PiMS and discrete reduction of A1AT serum levels. In addition, the pathophysiology of the disease, clinical and histopathological features, and current treatment possibilities are briefly reviewed.
脂膜炎是一种已被认可但罕见的α1抗胰蛋白酶（A1AT）缺乏症并发症。报道的病例少于60例，大多为纯合子PiZZ变异型。我们报告了一例55岁女性，患有与杂合子表型PiMS相关的A1AT脂膜炎，且A1AT血清水平有明显降低。此外，还简要回顾了该疾病的病理生理学、临床和组织病理学特征以及当前的治疗可能性。
