Skip to main content

Table 2 Dyskeratosis congenita (DC) cases with reported pulmonary disease who did not have a hematopoietic stem cell transplant (HSCT)

From: Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

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]

  1. 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.
  2. 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.