Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Abnormalities > Skin Abnormalities > Dyskeratosis Congenita Terms and Definitions




Dyskeratosis Congenita

Medical Definition: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Also Called: Zinsser-Cole-Engman Syndrome

Dyskeratosis Congenita Medical Definitions and Terms

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