Korean Journal of Pediatric Hematology-Oncology  2003;10(2):293-298

Dyskeratosis Congenita in a Girl.

Jun Sun YI 1 ; Hoon KOOK ; Hee Jo PAIK ; So Youn KIM ; Ik Sun CHOI ; Suk Joo KIM ; Kyoung Ran SOHN ; Ho Song NAM ; Tai Ju HWANG

Affiliations

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Keywords

Dyskeratosis congenita; Female; Autosomal recessive

Country

Republic of Korea

Language

Korean

Abstract

Dyskeratosis congenita (DC) is a rare genetic disorder encompassing abnormal skin pigmentation, dystrophic nails, leukoplakia of mucous membranes and others. Bone marrow failure is the cause of early mortality. Moreover, DC is known for its predisposition to malignancy. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. We describe here a rare case of DC in a 4-year-old girl showing dark skin, dystrophic toe nails, and mild bone marrow failure. Autosomal recessive disease was suggested as the patient is female, and tests for DKC1 and hTR mutations were negative. Intermittent treatment with oxymetholone and prednisolone for about 26 months resulted in stable hemoglobin and platelet response.