Imokawa S, Sato A, Toyoshima M, Yoshitomi A, Tamura R, Suda T, Suganuma H, Yagi T, Iwata M, Hayakawa H
Second Department of Internal Medicine, Hamamatsu University School of Medicine.
Intern Med. 1994 Apr;33(4):226-30. doi: 10.2169/internalmedicine.33.226.
A 46-year-old man was admitted to our hospital with cough and dyspnea on exertion. A chest X-ray film showed diffuse interstitial shadows. He had hyperpigmentation forming a network pattern around his neck and dystrophy of the fingernails and toenails, and was diagnosed as having dyskeratosis congenita. Histological examination of the lung specimen obtained from the left S4b by open lung biopsy revealed usual interstitial pneumonia pattern with neither asbestos bodies nor silicotic nodules. Taken together with previously published findings, pulmonary involvement is considered to be an important complication of dyskeratosis congenita.
一名46岁男性因咳嗽和劳力性呼吸困难入院。胸部X线片显示弥漫性间质阴影。他颈部周围有形成网状图案的色素沉着以及指甲和趾甲营养不良，被诊断为先天性角化不良。通过开胸肺活检从左肺上叶前段（S4b）获取的肺标本组织学检查显示为普通型间质性肺炎模式，未见石棉小体和矽结节。结合先前发表的研究结果，肺部受累被认为是先天性角化不良的一种重要并发症。
