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KMID : 0387820030100020293
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Clinical Pediatric Hematology-Oncology
2003 Volume.10 No. 2 p.293 ~ p.298
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Dyskeratosis Congenita in a Girl
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Lee Jun-Sun
Kook Hoon
Baek Hee-Jo
Kim So-Youn
Choi Ik-Sun
Kim Seok-Joo
Sohn Kyoung-Ran
Nam Ho-Song
Hwang Tai-Ju
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Abstract
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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.
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KEYWORD
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Dyskeratosis Congenita, Female, Autosomal recessive
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