Definitions of X Linked Dyskeratosis Congenitas
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.