Dyskeratosis congenita
Engelsk navn: Dyskeratosis congenita
Engelske synonym: DC,DKC,Zinsser-Engman-Cole syndrome
Definisjon
A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
Fra Orphanet
ORPHA: 1775
Klassifiseringsnivå: Disorder
ICD-10: Q82.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
