 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".
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