Dyskeratosis Congenita

Important
It is possible that the main title of the report Dyskeratosis Congenita is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

DKC
Dyschromatosis Universalis Hereditaria
Dyskeratosis Congenita Syndrome
Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Scoggins Type
Zinsser-Cole-Engman Syndrome

Disorder Subdivisions

None

General Discussion

Dyskeratosis Congenita is a rare disorder in which three groups of symptoms occur: darkening and/or unusual absence of skin color (hyper/hypopigmentation); progressive nail dystrophy; and slowly changing characteristics of mucous membranes (leukoplakia) in the anus, urethra, lips, mouth and/or eye.

Other symptoms found in some patients with this syndrome may be reduction in red and white blood cells and platelets (pancytopenia), overgrowth of skin on the palms of the hands and soles of the feet, excessive sweating of the palms and soles, sparse or absent hair, fragile bones, underdeveloped testes, and dental abnormalities. Dyskeratosis Congenita is more prevalent among males then females and an X-linked recessive inheritance is the most common form although cases of autosomal recessive and autosomal dominant inheritance have been recorded. This disorder has also occurred sporadically (no known cause) in a significant number of cases.

Resources

National Foundation for Ectodermal Dysplasias
410 East Main Street
PO Box 114
Mascoutah, IL 62258-0114
Tel: (618)566-2020
Fax: (618)566-4718
Email: info@nfed.org
Internet: http://www.nfed.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 1/14/2000
Copyright 1992, 2000 National Organization for Rare Disorders, Inc.

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