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dyskeratosis congenita

   Also found in: Wikipedia 0.01 sec.
dyskeratosis con·gen·i·ta (kn-jn-t)
n.
A genetic disorder marked by nail dystrophy, oral leukoplakia, pigmentation of the cellular connective tissue of the skin, and anemia progressing to pancytopenia.

dyskeratosis congenita,
an X-linked syndrome with onset in childhood, characterized by nail dystrophy, reticular cutaneous hyperpigmentation, mucosal leukokeratosis, and pancytopenia resembling that of Fanconi's syndrome.


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5-year-old boy with dyskeratosis congenita was brought for treatment to our hospital due to severe persistent cytopenia.
Although SDS may be representative of other inherited BM failure syndromes with a leukemic propensity, such as Fanconi anemia, Diamond-Blackfan anemia, or dyskeratosis congenita, studies of each of these disorders are needed to investigate this hypothesis.
 
 
 
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