Dyskeratosis congenita

Common Name(s)

Dyskeratosis congenita

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 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: 19 Feb 2013

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How do you compare to others with this condition?

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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 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: 19 Feb 2013

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General Support Organizations

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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 93 free, full-text research articles on human participants. First 3 results:

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
 

Author(s): Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal

Journal: Am. J. Hum. Genet.. 2013 Mar;92(3):448-53.

 

Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. ...

Last Updated: 11 Mar 2013

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
 

Author(s): Bari J Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P Alter, Sharon A Savage

Journal: Hum. Genet.. 2013 Apr;132(4):473-80.

 

Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere biology. The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity ...

Last Updated: 15 Mar 2013

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Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.
 

Author(s): Fabian Beier, Miguel Foronda, Paula Martinez, Maria A Blasco

Journal: Blood. 2012 Oct;120(15):2990-3000.

 

TRF1 is part of the shelterin complex, which binds telomeres and it is essential for their protection. Ablation of TRF1 induces sister telomere fusions and aberrant numbers of telomeric signals associated with telomere fragility. Dyskeratosis congenita is characterized by a mucocutaneous ...

Last Updated: 15 Oct 2012

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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 12 free, full-text review articles on human participants. First 3 results:

[Dyskeratosis congenita: short telomeres are not the rule].
 

Author(s): Fabien Touzot, Tangui Le Guen, Jean-Pierre de Villartay, Patrick Revy

Journal: Med Sci (Paris). ;28(6-7):618-24.

 

Telomeres are nucleoprotein structures at the end of linear chromosomes. Their length, structure, and integrity are regulated by the telomerase complex, the shelterins and components of the DNA damage response. In human subjects, defects in telomere maintenance are responsible for ...

Last Updated: 18 Jul 2012

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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: 28 Aug 2012

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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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Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Fanconi Anemia; Dyskeratosis Congenita

 

Last Updated: 20 Apr 2011

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