Almost 70 <i>DKC1</i> variations causing DC have been reported in the Human Gene Mutation Database.<h4>Results</h4>Here we described a 14-year-old boy in a Chinese family with a phenotype of abnormal skin pigmentation on the neck, oral leukoplakia, and nail dysplasia in his hands and feet. Here, DKC1 is linked to Oral leukoplakia.