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Genetic and Rare Diseases Information Center (GARD)

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Dyskeratosis congenita


Other Names for this Disease

  • DKC
  • Hoyeraal-Hreidarsson syndrome
  • Zinsser-Engman-Cole syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Dyskeratosis congenita is a disorder that may affect many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and (3) white patches inside the mouth (oral leukoplakia). People with dyskeratosis congenita also have an increased risk of developing several life-threatening conditions, including bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. The severity of dyskeratosis congenita varies widely among affected individuals. In about half of people, this condition is caused by mutations the DKC1, TERC, TERT, and TINF2 genes. Dyskeratosis congenita can have different inheritance patterns.[1]
Last updated: 1/20/2012

References

  1. Dyskeratosis congenita. Genetics Home Reference. April 2011; http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Dyskeratosis congenita. We will answer your question and update these pages with new resources and information.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Dyskeratosis congenita. This website is maintained by the National Library of Medicine.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

Insurance Issues

Other Names for this Disease
  • DKC
  • Hoyeraal-Hreidarsson syndrome
  • Zinsser-Engman-Cole syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.