Korean J Hematol 1999; 34(4):
Published online December 31, 1999
© The Korean Society of Hematology
신호진, 부철수, 김지수, 배우형, 홍진희, 정주섭, 이은엽, 조군제
부산대학교 의과대학 내과학교실,
부산대학교 의과대학 임상병리학교실,
부산해동병원 내과
Dyskeratosis congenita is a rare form of ectodermal dysplasia consisting of dystrophic nail, 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.
Keywords Dyskeratosis congenita, Myelodysplastic syndrome, Pancytopenia
Korean J Hematol 1999; 34(4): 614-618
Published online December 31, 1999
Copyright © The Korean Society of Hematology.
신호진, 부철수, 김지수, 배우형, 홍진희, 정주섭, 이은엽, 조군제
부산대학교 의과대학 내과학교실,
부산대학교 의과대학 임상병리학교실,
부산해동병원 내과
Ho Jin Shin, Cheol Su Poo, Ji Soo Kim, Woo Hyung Bae, Jin Hee Hong, Joo Seop Chung, Eun Yup Lee, Goon Jae Cho
Department of Internal Medicine, Clinical Pathology, Pusan National University College of Medicine
Department of Internal Medicine, Pusan Haedong Hospital, Pusan, Korea
Dyskeratosis congenita is a rare form of ectodermal dysplasia consisting of dystrophic nail, 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.
Keywords: Dyskeratosis congenita, Myelodysplastic syndrome, Pancytopenia
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