Dyskeratosis Congenita
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.
Year introduced: 1998
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Subheadings:
Tree Number(s): 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
MeSH Unique ID: D019871
Entry Terms:
- Zinsser-Cole-Engman Syndrome
- Syndrome, Zinsser-Cole-Engman
- Zinsser Cole Engman Syndrome
- Dyskeratosis Congenita, X-Linked
- Congenita, X-Linked Dyskeratosis
- Dyskeratosis Congenita, X Linked
- X-Linked Dyskeratosis Congenita
- X-Linked Dyskeratosis Congenitas