Dyskeratosis congenita

Definition

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia 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.

Also known as DC, DKC, dyskeratosis congenita, Zinsser-Engman-Cole syndrome — per MONDO

Also identified as

• DOID 2729 per MONDO
• MESH D019871 per MONDO
• NCIT C111802 per MONDO
• Orphanet 1775 per MONDO
• SCTID 74911008 per MONDO
• UMLS C0265965 per MONDO

Affected Organs