Dyskeratosis congenita
ORPHA:1775· ICD-10 Q82.8
Definition
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.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal