Congenita, X-Linked Dyskeratosis
Dyskeratosis Congenita, X Linked
Dyskeratosis Congenita, X-Linked
X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenitas
Zinsser Cole Engman Syndrome
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.