 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.
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
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| MeSH Number(s) |
C16.131.831.150 C16.320.322.108 C16.320.850.235 C17.800.804.150 C17.800.827.235
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| Concept/Terms |
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
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Below are MeSH descriptors whose meaning is more general than "Dyskeratosis Congenita".
Below are MeSH descriptors whose meaning is more specific than "Dyskeratosis Congenita".
This graph shows the total number of publications written about "Dyskeratosis Congenita" by people in UAMS Profiles by year, and whether "Dyskeratosis Congenita" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dyskeratosis Congenita" by people in Profiles over the past ten years.
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Alebrahim M, Akateh C, Arnold CA, Benissan-Messan D, Chavez JA, Singh N, Al-Adwan Y, El-Hinnawi A, Michaels A, Black SM. Liver Transplant for Management of Hepatic Complications of Dyskeratosis Congenita: A Case Report. Exp Clin Transplant. 2022 07; 20(7):702-705.
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