Kuo C Y, Lin D T, Tuu W M, Chen B W, Lin K H, Lin K S
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1989 Sep-Oct;30(5):337-41.
Dyskeratosis congenita is a rare hereditary disease which usually manifests with skin hyperpigmentation, nail dystrophy, and leukoplakia of the mucous membrane (triad). This report describes a six-year-old boy with severe aplastic anemia who was later diagnosed to have dyskeratosis congenita. His unusual presentation was pancytopenia followed by leukoplakia of the tongue, hyperpigmentation of the skin and dystrophy of the nails. Treatment with horse anti-human lymphocyte immunoglobulin (ALG) for his aplastic anemia was not effective.
先天性角化不良是一种罕见的遗传性疾病,通常表现为皮肤色素沉着、指甲营养不良和黏膜白斑(三联征)。本报告描述了一名患有严重再生障碍性贫血的6岁男孩,后来被诊断为先天性角化不良。他的不寻常表现是全血细胞减少,随后出现舌部白斑、皮肤色素沉着和指甲营养不良。用马抗人淋巴细胞免疫球蛋白(ALG)治疗他的再生障碍性贫血无效。