01726nam a22001937a 4500 D0001J000095 DOH 20210220143955.0 210220b ||||| |||| 00| 0 eng d A Filipino child with dyskeratosis congenita with a C→T substitution on nucleotide 1085 of the DKC1 gene / Miraflor Bas-Bucao [and three others] 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). In: Acta Medica Philippina, 2009 vol 43 (1) pages: 39-42 Dyskeratosis Congenita Bas-Bucao, Miraflor Cavan, Barbra Charina V. Limchiu, Susana Deborah P. Metzenberg, Aida JA 3011 3011 0 0 nlm 0 0 DOHCL DOHCL ElectronicRes 2021-02-20 0 J000095 D0001J000095 2021-02-20 00:00:00 2021-02-20 JA