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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
 

Author(s): Hemanth Tummala, Amanda Walne, Laura Collopy, Shirleny Cardoso, Josu de la Fuente, Sarah Lawson, James Powell, Nicola Cooper, Alison Foster, Shehla Mohammed, Vincent Plagnol, Thomas Vulliamy, Inderjeet Dokal

Journal: J. Clin. Invest.. 2015 May;125(5):2151-60.

 

Dyskeratosis congenita (DC) and related syndromes are inherited, life-threatening bone marrow (BM) failure disorders, and approximately 40% of cases are currently uncharacterized at the genetic level. Here, using whole exome sequencing (WES), we have identified biallelic mutations ...

Last Updated: 2 May 2015

Go To URL
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.
 

Author(s): Ndeye-Aicha Gueye, Chaim Jalas, Xin Tao, Deanne Taylor, Richard T Scott, Nathan R Treff

Journal: J. Assist. Reprod. Genet.. 2014 Sep;31(9):1227-30.

 

Last Updated: 8 Sep 2014

Go To URL
Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.
 

Author(s): Akshay Sharma, Kasiani Myers, Zhan Ye, John D'Orazio

Journal: Pediatr Blood Cancer. 2014 Dec;61(12):2302-4.

 

Two siblings presenting with exudative retinopathy, thrombocytopenia, and macrocytosis were found to have markedly shortened telomeres and a previously unreported inherited mutation in TERT, c.2603A>G. Revesz syndrome, a subtype of dyskeratosis congenita (DC) caused by TINF2 mutation, ...

Last Updated: 20 Oct 2014

Go To URL

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:

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

Go To URL
[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

Go To URL
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

Go To URL
 
 
Top

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: 2 Feb 2015

Go to URL
Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 22 Apr 2015

Go to URL
Abatacept Reduced Intensity for Non-Malignant Diseases
 

Status: Recruiting

Condition Summary: Hurler Syndrome; Fanconi Anemia; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Shwachman Diamond Syndrome; Diamond Blackfan Anemia; Dyskeratosis Congenita; Chediak Higashi Syndrome; Severe Aplastic Anemia; Thalassemia; Hemophagocytic Lymphohistiocytosis

 

Last Updated: 7 Apr 2015

Go to URL