Diseases

Dyskeratosis Congenita

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

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MeSH Record

Synonyms

8 entry terms
  • Dyskeratosis Congenita, X-Linked
  • Zinsser-Cole-Engman Syndrome
  • Congenita, X-Linked Dyskeratosis
  • Dyskeratosis Congenita, X Linked
  • Syndrome, Zinsser-Cole-Engman
  • X-Linked Dyskeratosis Congenita
  • X-Linked Dyskeratosis Congenitas
  • Zinsser Cole Engman Syndrome

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

98

MeSH Hierarchy

Tree Numbers

  1. C15.378w.190.223w.500.750w
  2. C16w.131w.831.150w
  3. C16w.320w.322.108w
  4. C16w.320w.850w.235w
  5. C17.800w.804.150w
  6. C17.800w.827w.235w

MeSH Record

NLM Classification

WR 218

AMA Style

References

  1. National Library of Medicine. Dyskeratosis Congenita. Medical Subject Headings (MeSH). 2026. Unique ID D019871. http://id.nlm.nih.gov/mesh/2026/D019871
  2. Dyskeratosis Congenita. In: Wikipedia. https://en.wikipedia.org/wiki/Dyskeratosis_congenita
  3. Dyskeratosis Congenita. In: Wikidata. https://www.wikidata.org/wiki/Q3709312