Dyskeratosis Congenita

**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.

**Tree numbers:** - C15.378.190.223.500.750 - C16.131.831.150 - C16.320.322.108 - C16.320.850.235 - C17.800.804.150 - C17.800.827.235