Division of Pulmonary and Critical Care Medicine, Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1690, USA.
Semin Respir Crit Care Med. 2012 Oct;33(5):572-5. doi: 10.1055/s-0032-1325165. Epub 2012 Sep 21.
Since the initial report in 1963 several small case series described an association between neurofibromatosis (NF) and interstitial lung disease. To date, more than 60 cases of interstitial lung disease associated with NF have been reported, but relatively few reports included high-resolution computed tomographic (HRCT) scans. Typical findings on HRCT include upper lobe predominant cystic and bullous disease, ground-glass opacification, and basilar reticular abnormalities. We present the case of a 34-year-old male smoker with NF and HRCT findings of diffuse lung disease including bullous emphysema, thin-walled cysts, and diffuse ground glass. Although NF-associated diffuse lung disease (NF-DLD) is disputed as a clinical entity by some, the case presented here adds to the accumulating evidence that NF-DLD is a distinct manifestation of neurofibromatosis.
自 1963 年首次报道以来，已有几个小的病例系列描述了神经纤维瘤病（NF）与间质性肺疾病之间的关联。迄今为止，已有超过 60 例与 NF 相关的间质性肺疾病的报道，但相对较少的报道包括高分辨率计算机断层扫描（HRCT）。HRCT 的典型表现包括上叶为主的囊状和大疱性疾病、磨玻璃影和基底网状异常。我们报告了一例 34 岁男性吸烟者，患有 NF 和 HRCT 表现为弥漫性肺疾病，包括大疱性肺气肿、薄壁囊肿和弥漫性磨玻璃影。尽管 NF 相关性弥漫性肺疾病（NF-DLD）被一些人认为是一种临床实体存在争议，但这里报告的病例增加了越来越多的证据，表明 NF-DLD 是神经纤维瘤病的一种独特表现。
