Table 2.
Dyskeratosis congenita (DC) cases with reported pulmonary disease who did not have a hematopoietic stem cell transplant (HSCT)
| Case | Sex | DC Triad | Age at Pulmonary Symptoms | Reported Pulmonary Findings | Lung Pathology (Biopsy or Autopsy) | Age Alive | Age Died | References |
|---|---|---|---|---|---|---|---|---|
| 1 | M | 3 | 27 | CXR mottled infiltration | Fibrocystic lung dysplasia | 27 | [29] | |
| 2 | M | 2 | 23 | Respiratory illnesses | Chronic pneumonitis | 31 | [30] | |
| 3 | M | 3 | 15 | CXR diffuse coarse parenchymal infiltration | Lung segmental fibrosis | 17 | [31] | |
| 4 | M | 3 | 11 | CXR bilateral hilar enlargement and peripheral markings, bronchopneumonia | 11 | [32] | ||
| 5 | M | 2 | 12 | Interstitial pneumonitis, restrictive lung disease, reduced DLCO | Bronchiocentric granulomatosis, obliteration of respiratory passages | 12 | [33] | |
| 6 | F | 3 | 20 | Diffuse interstitial pneumonitis, hypoxia, restrictive airway disease | Obliteration of bronchiolar lamina, mild interstitial pneumonitis | 20 | [33] | |
| 7 | M | 3 | 39 | Mild restrictive impairment, CXR coarse reticular pattern | Pneumothorax, nonspecific collagenous interstitial fibrosis | 39 | [34] | |
| 8 | M | 2 | 46 | Restrictive impairment, reduced diffusion. CT patchy high density areas and ring-like opacities | Focal fibrosis; UIP | 46 | [35] | |
| 9 | M | 3 | 10 | Restrictive pulmonary function, CT interstitial thickening and honeycombing | Fibrosis, reticular fibers. | 10 | [36,37] | |
| 10 | M | 3 | 30 | CT Interstitial lung fibrosis, DLCO 44% | Focal interstitial fibrosis, UIP | 38 | [38,39] | |
| 11 | M | 2 | 51 | CXR ground glass opacities | Organizing diffuse alveolar damage, UIP | 51 | [40] | |
| 12 | M | 3 | 40 | Restrictive function, CT ground glass, honeycombing | Fibrosis, UIP | 43 | [41] | |
| 13 | F | 3 | 32 | Interstitial fibrosis | 32.9 | [42] | ||
| 14 | M | 3 | 48 | Restrictive pattern, DLCO 30%, CT UIP | 48 | [43] | ||
| 15 | F | 3 | 40 | Surgery, XRT, chemotherapy for pharynx SCC at age 28; respiratory insufficiency age 40 | 40 | [44] | ||
| 16 | M | 3 | 37 | Pulmonary function, and CT, pulmonary fibrosis | 37.7 | [45] | ||
| 17 | M | 2 | 41 | Pulmonary fibrosis | 41 | [46] | ||
| 18 | M | 3 | 37 | Bronchitis | 37 | [46] | ||
| 19 | F | 3 | 30 | Interstitial fibrosis age 31 yr, left pneumothorax, then right pneumothorax | 32 | [47] | ||
| 20 | F | 2 | 12 | Interstitial pneumonitis | 12 | [5] | ||
| 21 | F | 1 | 52 | Pulmonary fibrosis | 52 | [5] | ||
| 22 | M | 1 | 68 | Pulmonary fibrosis | 68 | [5,48] | ||
| 23 | M | 1 | 45 | Pulmonary fibrosis | 47 | [5,48] | ||
| 24 | F | 0 | 63 | Pulmonary fibrosis | 65 | [19] | ||
| 25 | M | 0 | 52 | Pulmonary fibrosis | 52 | [19] | ||
| 26 | F | 0 | 54 | Pulmonary fibrosis | 54 | [19] | ||
| 27 | M | 0 | 21 | Pulmonary fibrosis | 22 | [19] | ||
| 28 | F | 0 | 64 | Fibrosing alveolitis | 64 | [20] | ||
| 29 | M | 0 | 60 | Cryptogenic fibrosing alveolitis, heart/lung transplant | 60 | [20] | ||
| 30 | M | 0 | 35 | Pulmonary symptoms | 35 | [21] | ||
| 31 | M | 0 | 24 | Pulmonary symptoms | 24 | [21] | ||
| 32 | M | 0 | 7 | Restrictive interstitial pulmonary disease | 7 | [21] | ||
| 33 | M | 0 | 33 | CT lungs fibrotic changes both apical regions | 33 | [21] | ||
| 34 | F | 0 | 44 | Restrictive pattern, decreased diffusion, CT pulmonary fibrosis | 46 | [22] | ||
| 35 | M | 0 | 32 | Diffuse interstitial pulmonary fibrosis | 32 | [22] | ||
| 36 | M | 0 | 50 | Decreased diffusion, CT pulmonary fibrosis | 50 | [22] | ||
| 37 | F | 0 | 37 | Pulmonary fibrosis | 37 | [22] | ||
All ages are reported in years. The age at pulmonary symptoms is based on the age listed in each report. Triad denotes the classic triad of DC and consists of nail dystrophy, oral leukoplakia, and lacy reticular pigmentation.
Abbreviations: CXR, chest radiograph; XRT, radiotherapy; CT, computerized tomography; DC, dyskeratosis congenita; DLCO, diffusion capacity for carbon monoxide; F, female; M, male; SCC, squamous cell carcinoma; UIP, usual interstitial pneumonia.