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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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Tree Number(s): 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

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