A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation

Dyskeratosis congenita is a hereditary short telomere disease caused by mutations in telomerase-related genes. The classic clinical manifestations are oral leukoplakia, nail dystrophy, and skin pigmentation. This article reported a 7-year-old male child diagnosed with dyskeratosis congenita but with dorsal tongue erosion as the first manifestation. Genetic testing results confirmed DKC1 gene mutations and a literature review was performed.