Dyskeratosis Congenita

"Dyskeratosis Congenita" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

Descriptor ID	D019871
MeSH Number(s)	C16.131.831.150 C16.320.322.108 C16.320.850.235 C17.800.804.150 C17.800.827.235
Concept/Terms	Dyskeratosis Congenita Dyskeratosis Congenita Zinsser-Cole-Engman Syndrome Zinsser-Cole-Engman Syndrome Syndrome, Zinsser-Cole-Engman Zinsser Cole Engman Syndrome Dyskeratosis Congenita, X-Linked Congenita, X-Linked Dyskeratosis Dyskeratosis Congenita, X Linked X-Linked Dyskeratosis Congenita X-Linked Dyskeratosis Congenitas

Below are MeSH descriptors whose meaning is more general than "Dyskeratosis Congenita".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Skin Abnormalities [C16.131.831]
Dyskeratosis Congenita [C16.131.831.150]
Genetic Diseases, Inborn [C16.320]
Genetic Diseases, X-Linked [C16.320.322]
Dyskeratosis Congenita [C16.320.322.108]
Skin Diseases, Genetic [C16.320.850]
Dyskeratosis Congenita [C16.320.850.235]
Skin and Connective Tissue Diseases [C17]
Skin Diseases [C17.800]
Skin Abnormalities [C17.800.804]
Dyskeratosis Congenita [C17.800.804.150]
Skin Diseases, Genetic [C17.800.827]
Dyskeratosis Congenita [C17.800.827.235]

Below are MeSH descriptors whose meaning is related to "Dyskeratosis Congenita".

Below are MeSH descriptors whose meaning is more specific than "Dyskeratosis Congenita".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Dyskeratosis Congenita" by people in this website by year, and whether "Dyskeratosis Congenita" was a major or minor topic of these publications.

Bar chart showing 9 publications over 8 distinct years, with a maximum of 2 publications in 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Total
1999	1	1
2008	1	1
2009	1	1
2013	1	1
2014	1	1
2017	2	2
2019	1	1
2021	1	1

Below are the most recent publications written about "Dyskeratosis Congenita" by people in Profiles.

Adams C, Say E, Cheeseman EW. Bilateral Exudative Retinopathy in a Child with Revesz Syndrome, a Severe Variant of Dyskeratosis Congenita. Ophthalmol Retina. 2021 11; 5(11):1106.

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Trott KE, Briddell JW, Corao-Uribe D, Powell J, Seecof OM, Levy C, Miller EG, Shah UK. Dyskeratosis Congenita and Oral Cavity Squamous Cell Carcinoma: Report of a Case and Literature Review. J Pediatr Hematol Oncol. 2019 08; 41(6):501-503.

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Indaram M, Agarwal S, Yonekawa Y. Exudative Vitreoretinopathy in Dyskeratosis Congenita. Ophthalmology. 2017 08; 124(8):1246.

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Thanos A, Todorich B, Hypes SM, Yonekawa Y, Thomas B, Randhawa S, Drenser KA, Trese MT. RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. Retin Cases Brief Rep. 2017 Winter; 11 Suppl 1:S187-S190.

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Gueye NA, Jalas C, Tao X, Taylor D, Scott RT, Treff NR. Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. J Assist Reprod Genet. 2014 Sep; 31(9):1227-30.

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Gadalla SM, Sales-Bonfim C, Carreras J, Alter BP, Antin JH, Ayas M, Bodhi P, Davis J, Davies SM, Deconinck E, Deeg HJ, Duerst RE, Fasth A, Ghavamzadeh A, Giri N, Goldman FD, Kolb EA, Krance R, Kurtzberg J, Leung WH, Srivastava A, Or R, Richman CM, Rosenberg PS, Toledo Codina JS, Shenoy S, Soci? G, Tolar J, Williams KM, Eapen M, Savage SA. Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. Biol Blood Marrow Transplant. 2013 Aug; 19(8):1238-43.

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Johnson CA, Hatfield M, Pulido JS. Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita. Ophthalmic Genet. 2009 Dec; 30(4):181-4.

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Teixeira LF, Shields CL, Marr B, Horgan N, Shields JA. Bilateral retinal vasculopathy in a patient with dyskeratosis congenita. Arch Ophthalmol. 2008 Jan; 126(1):134-5.

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McGrath JA. Dyskeratosis congenita: new clinical and molecular insights into ribosome function. Lancet. 1999 Apr 10; 353(9160):1204-5.

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