Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein

X-linked dyskeratosis congenita (DC) is an inherited disease caused by mutations in the DKC1 gene[1]. In typical cases, abnormal skin pigmentation and nail changes usually appear first, often by 10 years of age, with bone marrow failure and death developing before 20 and 40 years of age, respectively [2]. We report a patient with X-linked DC with a late presentation, where a substitution of methionine to threonine at position 350 in the dyskerin protein was found.A 35-year-old Japanese male presented [...]