A Case of Dyskeratosis Congenita with Myelodysplastic Syndrome.
- Author:
Ho Jin SHIN
1
;
Cheol Su POO
;
Ji Soo KIM
;
Woo Hyung BAE
;
Jin Hee HONG
;
Joo Seop CHUNG
;
Eun Yup LEE
;
Goon Jae CHO
Author Information
1. Department of Internal Medicine, Pusan National University College of Medicine, Pusan, Korea.
- Publication Type:Case Report
- Keywords:
Dyskeratosis congenita;
Myelodysplastic syndrome;
Pancytopenia
- MeSH:
Anemia, Aplastic;
Anemia, Refractory;
Bone Marrow;
Dyskeratosis Congenita*;
Ectodermal Dysplasia;
Fingers;
Hyperpigmentation;
Leukoplakia;
Myelodysplastic Syndromes*;
Pancytopenia;
Pigmentation;
Skin;
Toes;
Tongue
- From:Korean Journal of Hematology
1999;34(4):614-618
- CountryRepublic of Korea
- Language:Korean
-
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.
