Dyskeratosis Congenita

Synonyms

Congenita, X-Linked Dyskeratosis

Dyskeratosis Congenita, X Linked

Dyskeratosis Congenita, X-Linked

Syndrome, Zinsser-Cole-Engman

X-Linked Dyskeratosis Congenita

X-Linked Dyskeratosis Congenitas

Zinsser Cole Engman Syndrome

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.