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

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.
 

Author(s): Hongchun Du, Yubiao Guo, Di Ma, Kejing Tang, Decheng Cai, Yifeng Luo, Canmao Xie

Journal: Medicine (Baltimore). 2018 May;97(19):e0724.

 

Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals ...

Last Updated: 31 Dec 1969

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Cytomegalovirus Retinitis as a Presenting Feature of Multisystem Disorder: Dyskeratosis Congenita.
 

Author(s): Swapnil Parchand, Adarsh Barwad

Journal: Middle East Afr J Ophthalmol. ;24(4):219-221.

 

Cytomegalovirus (CMV) retinitis is an opportunistic infection commonly seen in disorders that affect the immune system of the body such as acquired immunodeficiency syndrome and hematological malignancies such as leukemia/lymphoma or organ transplantation. The occurrence of CMV retinitis ...

Last Updated: 31 Dec 1969

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Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.
 

Author(s): Jonathan Bizarro, U Thomas Meier

Journal: Mol Genet Genomic Med. 2017 11;5(6):805-808.

 

The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate the interaction of NAP57 with its chaperone SHQ1, but no DC mutations ...

Last Updated: 31 Dec 1969

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

Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview.
 

Author(s): Mouhab Ayas

Journal: Hematol Oncol Stem Cell Ther. 2017 Dec;10(4):285-289.

 

Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many ...

Last Updated: 31 Dec 1969

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Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.
 

Author(s): Pasquale Barbaro, Aditi Vedi

Journal: Biol. Blood Marrow Transplant.. 2016 Jul;22(7):1152-1158.

 

Dyskeratosis congenita (DC) is a multisystem disorder, with a disruption in telomere biology leading to very short telomeres underpinning its pathophysiology. Bone marrow failure is a key feature in DC and is the leading cause of mortality. Hematopoietic stem cell transplantation ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 3 Dec 2017

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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: 4 Aug 2018

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Cancer in Inherited Bone Marrow Failure Syndromes
 

Status: Recruiting

Condition Summary: Diamond Blackfan Anemia; Dyskeratosis Congenita; Fanconi Anemia; Shwachman Diamond Syndrome; Inherited Bone Marrow Failure Syndrome, Aplastic Anemia

 

Last Updated: 8 Aug 2018

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