Dyskeratosis Congenita in a Girl / 대한소아혈액종양학회지
Korean Journal of Pediatric Hematology-Oncology
;
: 293-298, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-194902
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oximetolona
/
Pele
/
Plaquetas
/
Medula Óssea
/
Pigmentação da Pele
/
Prednisolona
/
Dedos do Pé
/
Mortalidade
/
Disceratose Congênita
/
Leucoplasia
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Pediatric Hematology-Oncology
Ano de publicação:
2003
Tipo de documento:
Artigo
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