Dyskeratosis Congenita

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Is a:
  • Disease or Syndrome
  • Congenital Abnormality
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.
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
Broader Topics:
Narrower Topics:
  • None
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