font size

Definition of Syndrome, dyskeratosis congenita

Syndrome, dyskeratosis congenita: An inherited cause of bone-marrow failure, dyskeratosis congenita is a syndrome characterized by abnormal excess skin pigmentation, abnormal or absent nails, and mucosal leukoplakia (white premalignant areas on the lips and conjunctiva of the eyes and in the mouth, anus, and urethra).

More than 80% of patients with dyskeratosis congenita develop bone-marrow failure with decreasing production of all types of blood cells (pancytopenia).

Premature death is caused by the bone-marrow failure (in 20% of cases), malignant transformation of the leukoplakia (30%), or overwhelming infections (50%) associated with immune deficiency.

Most cases of the disease are X-linked. They are due to mutations (changes) in a gene on the X chromosome called DKC1 which encodes a protein called dyskerin. A seemingly-normal mother carrying the DKC1 mutation has a 50:50 chance of transmitting it to a son who then will suffer from the disease. The average age at death is 24 years.

Source: MedTerms™ Medical Dictionary
http://www.medicinenet.com/script/main/art.asp?articlekey=9589
Last Editorial Review: 6/14/2012

Drug Medical Dictionary of Terms by Letter

Top RxList Drug News

Women's Health

Find out what women really need.

advertisement
advertisement
Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations