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Dyskeratosis congenita: Unusual onset with isolated neutropenia at an early age
Author(s) -
YEL LEMAN,
TEZCAN ILHAN,
SANAL ÖZDEN,
ERSOY FÜGEN,
BERKEL A IZZET
Publication year - 1996
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1996.tb03490.x
Subject(s) - medicine , dyskeratosis congenita , neutropenia , dermatology , pediatrics , telomere , genetics , dna , biology , toxicity
A 3.5 year old male patient with dyskeratosis congenita (DC) presented at the age of 13 months with isolated neutropenia preceding characteristic skin findings. The average absolute neutrophil count of 500/mm 3 persisted without the presence of anemia or thrombocytopenia during the follow up. Neutropenia responded to granulocyte‐colony stimulating factor (G‐CSF) at a dose of 10 μg/kg per day. Immunologic findings were normal as was the chromosomal stability and sister chromatid exchange.