Table 1.
Clinical Features of the Dutch Family Members Affected by Dyskeratosis Congenita
| II:1 | II:3 | II:6 | II:7 | III:6 | III:7 | III:12 | |
|---|---|---|---|---|---|---|---|
| Reticular pigmentation | - | + | ? | + | - | - | + |
| Dystrophic nails | + | + | ? | + | - | + | + |
| Leukoplakia | - | - | ? | - | - | - | - |
| Bone-marrow failure | - | - | - | - | thr | + (34 years) | + (15 years) |
| Pulmonary fibrosis | + (57 years) | + (58 years) | + (53 years) | + (57 years) | - | + (33 years) | + (17 years) |
| Liver cirrhosis | - | - | - | - | + (21 years) | - | - |
| Osteoporosis | + (57 years) | + (65 years) | ? | ? | + | ||
| Malignancy | - | + (66 years)a | - | - | - | - | - |
| Age at death (years) | 59 | 66 | 55 | 59 | 32 | alive | 26 |
The presence (+) or absence (-) of each feature is reported for each individual. Age at first presentation is indicated where known. The following abbreviations are used: thr, thrombocytopenia; ?, data not available.
a
Squamous cell cancer of the head and neck region.