摘要目的 探讨以血小板减少就诊的先天性角化不良患儿的临床及遗传学特点.方法 分析1例4岁10个月患儿的临床特点,采用聚合酶链反应及直接测序的方法检测DKC1基因.结果 患儿1岁起病,表现皮肤网状色素沉着、甲萎缩和黏膜白斑三联征,伴有多系统受累;为DKC1(1058C-T,A353V)基因突变.结论 患儿具有先天性角化不良的临床特点,存在DKC1基因突变,诊断X连锁隐性遗传型先天性角化不良.

abstractsObjective To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia. Method The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKC1 gene was analyzed using PCR amplification and DNA sequencing. Result The age of onset of the boy was 1 year. He presented with abnormal cutaneous pigmentation, nail dystrophy and mucosal leukoplakia accompanied by multi-system abnormalities. DKC1 (1058C-T, A353V)was detected in the patient. Conclusion The patient presented with classical features of dyskeratosis congenita and DKC1 (1058C-T,A353V) did exist in this patient X-linked recessive dyskeratosis congenita was confirmed.