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.

Also Known As:

X-Linked Dyskeratosis Congenita; Congenita, X-Linked Dyskeratosis; Dyskeratosis Congenita, X Linked; Syndrome, Zinsser-Cole-Engman; X-Linked Dyskeratosis Congenitas; Zinsser Cole Engman Syndrome; Dyskeratosis Congenita, X-Linked; Zinsser-Cole-Engman Syndrome

Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Bone Marrow Diseases: 139
    - Bone Marrow Failure Disorders: 1111
      - Congenital Bone Marrow Failure Syndromes: 115
        Dyskeratosis Congenita: 341
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Skin Abnormalities: 159
    - Dyskeratosis Congenita: 341
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Dyskeratosis Congenita: 341
  - X-Linked Genetic Diseases: 42
    - Dyskeratosis Congenita: 341
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Skin Abnormalities: 159
    - Dyskeratosis Congenita: 341
  - Genetic Skin Diseases: 51
    - Dyskeratosis Congenita: 341

A Jarmołowski Selected Research

A Jarmołowski Research Topics

Disease

Drug/Important Bio-Agent (IBA)