Dyskeratosis congenita

Common Name(s)

Dyskeratosis congenita, Zinsser-Cole-Engman syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dyskeratosis congenita" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

Last Updated: 1 Nov 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dyskeratosis congenita" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

http://www.dcoutreach.com

Last Updated: 1 Nov 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dyskeratosis congenita" returned 96 free, full-text research articles on human participants. First 3 results:

A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.
 

Author(s): David Frescas, Titia de Lange

Journal: Genes Dev.. 2014 Jan;28(2):153-66.

 

The progressive bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations in telomerase or the factors involved in telomerase biogenesis and trafficking. However, a subset of DC patients is heterozygous for mutations in the shelterin component TIN2. To ...

Last Updated: 22 Jan 2014

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DNA damage responses and oxidative stress in dyskeratosis congenita.
 

Author(s): Larisa Pereboeva, Erik Westin, Toral Patel, Ian Flaniken, Lawrence Lamb, Aloysius Klingelhutz, Frederick Goldman

Journal:

 

Dyskeratosis congenita (DC) is an inherited multisystem disorder of premature aging, cancer predisposition, and bone marrow failure caused by selective exhaustion of highly proliferative cell pools. DC patients also have a poor tolerance to chemo/radiotherapy and bone marrow transplantation. ...

Last Updated: 14 Oct 2013

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Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
 

Author(s): Jonathan K Alder, Erin M Parry, Srinivasan Yegnasubramanian, Christa L Wagner, Lawrence M Lieblich, Robert Auerbach, Arleen D Auerbach, Sarah J Wheelan, Mary Armanios

Journal: Hum. Mutat.. 2013 Nov;34(11):1481-5.

 

Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance accounts for half the cases, and is thought to predominantly manifest in childhood as bone marrow failure. We identified two male probands who presented ...

Last Updated: 10 Oct 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dyskeratosis congenita" returned 11 free, full-text review articles on human participants. First 3 results:

The genetics of dyskeratosis congenita.
 

Author(s): Philip J Mason, Monica Bessler

Journal: Cancer Genet. 2011 Dec;204(12):635-45.

 

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with characteristic mucocutaneous features and a variable series of other somatic abnormalities. The disease is heterogeneous at the genetic and clinical levels. Determination of the genetic basis ...

Last Updated: 30 Jan 2012

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Dyskeratosis congenita.
 

Author(s): Inderjeet Dokal

Journal: Hematology Am Soc Hematol Educ Program. 2011 ;2011():480-6.

 

Dyskeratosis congenita (DC) is a multisystem inherited syndrome exhibiting marked clinical and genetic heterogeneity. In its classic form, it is characterized by mucocutaneous abnormalities, BM failure, and a predisposition to cancer. BM failure is the principal cause of premature ...

Last Updated: 14 Dec 2011

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Dyskeratosis congenita as a disorder of telomere maintenance.
 

Author(s): Nya D Nelson, Alison A Bertuch

Journal: Mutat. Res.. 2012 Feb;730(1-2):43-51.

 

Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized ...

Last Updated: 11 Jan 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Hoyeraal Hreidarsson Syndrome; Revesz Syndrome; Aplastic Anemia

 

Last Updated: 20 May 2014

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SCT for Dyskeratosis Congenita or SAA
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 4 Mar 2014

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Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
 

Status: Not yet recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 10 Jun 2014

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