Dyskeratosis congenita

Common Name(s)

Dyskeratosis congenita, Zinsser-Cole-Engman syndrome

Dyskeratosis congenita (DKC) is a rare genetic condition that affects many parts of the body. The three major features seen in DKC include abnormally shaped fingernails and toenails that grow poorly (nail dystrophy), changes in skin coloring (pigmentation) on the neck and chest, and white patches inside the mouth (oral leukoplakia). In addition, people with DKC can also have abnormal bone marrow function (bone marrow failure), abnormal blood cell development (myelodysplastic syndrome), an increased risk for blood based cancer (leukemia), lung problems, eye abnormalities, dental problems, prematurely grey hair, hair loss, low bone mineral density (osteoporosis), and liver disease. The severity of symptoms varies and some people with DKC only have a few mild features.

Mutations (changes) within several genes have been associated with DKC. Not all genes are known however, as only 60% of people with DKC have had disease-causing mutations identified. DKC can be inherited in many different ways, depending on which gene is causing the disease. One form of DKC affects males only, while the others affect males and females equally. There is no cure for DKC, but treatment options are available to help with some of the symptoms. If you or someone you know has this diagnosis, talk to your doctor about the most current treatment options. Support groups are a good source of information and can put you in contact with other families.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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

Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report.
 

Author(s): Xiao-Yu Zheng, Jia Xu, Wei Li, Si-Si Li, Cai-Ping Shi, Zheng-Yan Zhao, Jian-Hua Mao, Xi Chen

Journal: Medicine (Baltimore). 2016 Mar;95(12):e3106.

 

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. The main cause of mortality in DC is immunodeficiency and vital infection. DC involves multisystem, but retinal involvements ...

Last Updated: 26 Mar 2016

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Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.
 

Author(s): Larisa Pereboeva, Meredith Hubbard, Frederick D Goldman, Erik R Westin

Journal:

 

Dyskeratosis Congenita (DC) is an inherited multisystem premature aging disorder with characteristic skin and mucosal findings as well as a predisposition to cancer and bone marrow failure. DC arises due to gene mutations associated with the telomerase complex or telomere maintenance, ...

Last Updated: 10 Feb 2016

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Hepatic Angiosarcoma with Dyskeratosis Congenita.
 

Author(s): Norio Horiguchi, Satoru Kakizaki, Keisuke Iizuka, Satoshi Hagiwara, Tatsuya Ohyama, Yuichi Yamazaki, Nobuyuki Shibusawa, Ken Sato, Motoyasu Kusano, Yoichi Nakazato, Masanobu Yamada

Journal: Intern. Med.. 2015 ;54(22):2867-72.

 

Nail dystrophy, oral leukoplakia and abnormal skin pigmentation are the defining features of dyskeratosis congenita. Dyskeratosis congenita is a disorder of poor telomere maintenance and is known to increase the risk of developing multiple types of malignancy. However, there are few ...

Last Updated: 16 Nov 2015

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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:

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.
 

Author(s): Maria M Gramatges, Alison A Bertuch

Journal: Transl Res. 2013 Dec;162(6):353-63.

 

Telomeres are DNA-protein structures that form a protective cap on chromosome ends. As such, they prevent the natural ends of linear chromosomes from being subjected to DNA repair activities that would result in telomere fusion, degradation, or recombination. Both the DNA and protein ...

Last Updated: 18 Nov 2013

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[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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 14 Sep 2015

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Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 15 Aug 2016

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Investigation of the Genetics of Hematologic Diseases
 

Status: Recruiting

Condition Summary: Bone Marrow Failure Syndromes; Erythrocyte Disorder; Leukocyte Disorder; Hemostasis; Blood Coagulation Disorder; Sickle Cell Disease; Dyskeratosis Congenita; Diamond-Blackfan Anemia; Congenital Thrombocytopenia; Severe Congenital Neutropenia; Fanconi Anemia

 

Last Updated: 21 Sep 2016

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