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A Filipino child with dyskeratosis congenita with a C→T substitution on nucleotide 1085 of the DKC1 gene / Miraflor Bas-Bucao [and three others]

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Dyskeratosis Congenita

Abstract: We present a 4 year old Filipino male child with leukoplakia, poor dentition, reticular hyperpigmentation, mild hyperkeratosis of both heels, nail dystrophy, and pallor/anemia. These features are consistent with Dyskeratosis Congenita (DKC) or Zinsser-Engman-Cole syndrome, a rare genodermatosis. He is the youngest in a sibship of three, born to non-consanguineous Filipino parents. The family pedigree is consistent with the X-linked recessive type of DKC. Our patient's bone marrow examination revealed erythroid hyperblasia, dysplastic changes in granulocyte and erythroid cells, and was negative for tumor cells. There was no undue proliferation of immature blast cells. Bone marrow failure in this syndrome is usually progressive but severity is known to vary. His skin biopsy results were consistent with DKC showing atrophic squamous epithelium, mild hyperkeratosis, melanophages, and telangiectatic vessels. Molecular studies revealed a C->T substitution on nucleotide 1058 of the DKC1 gene producing a commonly reported alanine to valine change at position 353 (A353V).

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	Journal Article	DOH Central Library Electronic Resource Section				J000095 (Browse shelf(Opens below))					Available			D0001J000095

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Previous	J000092 A five-year review of cases referred to the genetics clinic, PGH for findings of congenital anomalies on prenatal ultrasound /	J000093 Molecular analysis of the MUT gene in Filipino patients with methylmalonic acidemia /	J000094 Enzyme replacement therapy in Filipino patients with Gaucher disease and Pompe disease /	J000095 A Filipino child with dyskeratosis congenita with a C→T substitution on nucleotide 1085 of the DKC1 gene /	J000096 X-linked adrenoleukodystrophy in three Filipino families /	J000097 Complete sternal cleft in a Filipino newborn /	J000098 Misoprostol teratogenicity in six Filipino children :	Next

We present a 4 year old Filipino male child with leukoplakia, poor dentition, reticular hyperpigmentation, mild hyperkeratosis of both heels, nail dystrophy, and pallor/anemia. These features are consistent with Dyskeratosis Congenita (DKC) or Zinsser-Engman-Cole syndrome, a rare genodermatosis. He is the youngest in a sibship of three, born to non-consanguineous Filipino parents. The family pedigree is consistent with the X-linked recessive type of DKC. Our patient's bone marrow examination revealed erythroid hyperblasia, dysplastic changes in granulocyte and erythroid cells, and was negative for tumor cells. There was no undue proliferation of immature blast cells. Bone marrow failure in this syndrome is usually progressive but severity is known to vary. His skin biopsy results were consistent with DKC showing atrophic squamous epithelium, mild hyperkeratosis, melanophages, and telangiectatic vessels. Molecular studies revealed a C->T substitution on nucleotide 1058 of the DKC1 gene producing a commonly reported alanine to valine change at position 353 (A353V).