| Dyskeratosis congenita | |
|---|---|
| Other names | Zinsser-Cole-Engman syndrome,[1][2]: 570 |
 | |
| Dyskeratosis congenita is inherited in an X-linked recessive manner | |
| Specialty | Medical genetics  |
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype.[3] The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, and myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), but these components do not always occur.[3] DKC is characterized by short telomeres. The disease initially can affect the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality.[3]
- ^ Online Mendelian Inheritance in Man (OMIM): 305000
- ^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0..
- ^ a b c Online Mendelian Inheritance in Man (OMIM): 127550