Utz James P, Ryu Jay H, Myers Jeffrey L, Michels Virginia V
Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Mayo Clin Proc. 2005 Jun;80(6):817-21. doi: 10.1016/S0025-6196(11)61538-3.
Dyskeratosis congenita (DC) is a rare disorder characterized by skin hyperpigmentation, nail dystrophy, and leukoplakia of mucous membranes. Pulmonary complications occur in approximately 20% of patients, although the specific histopathologic features, the temporal relationship between the diagnosis of DC and the development of pulmonary fibrosis, and the response to specific treatment are largely undefined. We describe 2 patients with DC who developed usual interstitial pneumonia. Pulmonary fibrosis developed 18 and 38 years after the original manifestations of DC. Both patients died of respiratory failure, 4 and 6 months after lung biopsy. Pulmonary fibrosis in patients with DC may be linked to underlying abnormalities of fibroblast function.
先天性角化不良（DC）是一种罕见的疾病，其特征为皮肤色素沉着、指甲营养不良和黏膜白斑。约20%的患者会出现肺部并发症，不过其具体的组织病理学特征、DC诊断与肺纤维化发生之间的时间关系以及对特定治疗的反应在很大程度上尚不清楚。我们描述了2例发生普通型间质性肺炎的DC患者。肺纤维化在DC最初表现出现后18年和38年发生。两名患者均在肺活检后4个月和6个月死于呼吸衰竭。DC患者的肺纤维化可能与成纤维细胞功能的潜在异常有关。
