Clinical and pathophysiological differences between dyskeratosis congenita and acquired aplastic anemia with short telomeres of leukocytes
| . | Dyskeratosis congenita . | Short-telomere acquired aplastic anemia . |
|---|---|---|
| Mucocutaneous triad (leukoplakia, hyperpigmentation, nail dystrophy), % | ∼90 | No |
| Pulmonary fibrosis, % | 20 | Observed in relatives |
| Liver cirrhosis, % | 7 | Observed in relatives |
| Malignancy, % | 10 | Observed in relatives (MDS, AML) |
| Short stature, % | 20 | No |
| Genes involved | DKC1 | — |
| TERC | TERC | |
| TERT | TERT | |
| NOP10 | — | |
| TINF2 | — | |
| — | TERF1 | |
| — | TERF2 | |
| — | SBDS |
| . | Dyskeratosis congenita . | Short-telomere acquired aplastic anemia . |
|---|---|---|
| Mucocutaneous triad (leukoplakia, hyperpigmentation, nail dystrophy), % | ∼90 | No |
| Pulmonary fibrosis, % | 20 | Observed in relatives |
| Liver cirrhosis, % | 7 | Observed in relatives |
| Malignancy, % | 10 | Observed in relatives (MDS, AML) |
| Short stature, % | 20 | No |
| Genes involved | DKC1 | — |
| TERC | TERC | |
| TERT | TERT | |
| NOP10 | — | |
| TINF2 | — | |
| — | TERF1 | |
| — | TERF2 | |
| — | SBDS |
MDS indicates myelodysplastic syndrome; AML, acute myelogenous leukemia; and —, not mutated.