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Dyskeratosis Congenita in a Girl / 대한소아혈액종양학회지
Korean Journal of Pediatric Hematology-Oncology ; : 293-298, 2003.
Artículo en 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.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Oximetolona / Piel / Plaquetas / Médula Ósea / Pigmentación de la Piel / Prednisolona / Dedos del Pie / Mortalidad / Disqueratosis Congénita / Leucoplasia Tipo de estudio: Estudio pronóstico Límite: Child, preschool / Femenino / Humanos Idioma: Coreano Revista: Korean Journal of Pediatric Hematology-Oncology Año: 2003 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Oximetolona / Piel / Plaquetas / Médula Ósea / Pigmentación de la Piel / Prednisolona / Dedos del Pie / Mortalidad / Disqueratosis Congénita / Leucoplasia Tipo de estudio: Estudio pronóstico Límite: Child, preschool / Femenino / Humanos Idioma: Coreano Revista: Korean Journal of Pediatric Hematology-Oncology Año: 2003 Tipo del documento: Artículo