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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Dyskeratosis Congenita
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Dyskeratosis Congenita
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Dyskeratosis Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Congenital Bone Marrow Failure Syndromes > Dyskeratosis Congenita
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Congenital Bone Marrow Failure Syndromes > Dyskeratosis Congenita

Preferred term

Dyskeratosis Congenita  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Syndrome, Zinsser-Cole-Engman
  • Zinsser Cole Engman Syndrome
  • Zinsser-Cole-Engman Syndrome

Scope note

  • 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.

History note

  • 98

In other languages

URI

http://www.yso.fi/onto/mesh/D019871

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