PDF(Pubmed)
Abstract：
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this triad are established. Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively.
摘要：
先天性角化病（DC）是一种罕见的遗传性骨髓衰竭综合征和端粒生物学障碍，乌苏莱由口腔白斑三联征组成，营养不良的指甲，网状皮肤色素沉着。在大多数情况下，可以在确定该三联症的所有临床发现后进行诊断。在这里，我们报告了一个7岁的男孩，他有口腔白斑和指甲异常，没有皮肤受累，与诊断为X连锁DC的骨髓衰竭相关的DKC1突变。我们的报告强调了这样一个事实，即临床怀疑可以预防致命的后果，因为所有的表现可能并不总是被集体看到。
