A Case of Dyskeratosis Congenita with Myelodysplastic Syndrome / 대한혈액학회지

ABSTRACT

Dyskeratosis congenita is a rare form of ectodermal dysplasia consisting of dystrophic nails, reticular hyperpigmentation and leukoplakia, that is often associated with aplastic anemia. We have experienced a 17 year-old-man who had reticular pigmentation of the skin and dystrophic changes of the fingers and toe nails. The tongue was smooth and lingual papillae disappeared with formation of adherent white leukoplakic patches. Laboratory data revealed pancytopenia. Bone marrow study showed mild hypocellular marrow with dyserythropoiesis, suggesting the refractory anemia of myelodysplastic syndrome. We report one case of dyskeratosis congenita with myelodysplastic syndrome with a review of literature.