Dyskeratosis Congenita in a Girl.
- Author:
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
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. hoonkook@chonnam.ac.kr
- Publication Type:Case Report
- Keywords:
Dyskeratosis congenita;
Female;
Autosomal recessive
- MeSH:
Blood Platelets;
Bone Marrow;
Child, Preschool;
Dyskeratosis Congenita*;
Female*;
Humans;
Leukoplakia;
Mortality;
Mucous Membrane;
Oxymetholone;
Prednisolone;
Skin;
Skin Pigmentation;
Toes
- From:Korean Journal of Pediatric Hematology-Oncology
2003;10(2):293-298
- CountryRepublic 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.
