Definition
Dyskeratosis congenita is a rare genetic disease characterized by leukoplakia, nail dystrophy and skin pigmentation, with a risk of bone marrow failure and cancer.
Symptoms
- Mucosal leukoplakia
- Nail dystrophy
- Reticular pigmentation of the skin
- Bone marrow failure
Reasons
Mutation in telomere maintenance genes.
Diagnosis
Clinical findings, genetic testing, telomere length measurement.
Treatment
Bone marrow transplantation, androgen therapy.
Which Polyclinic Should You Apply To?
Hematology Polyclinic
What to Do in an Emergency?
In case of severe bleeding or infection, emergency services should be consulted.
This page is for general information purposes only.