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Table 1 Major, minor, and minimal criteria according to the 2017 nosology of classical Ehlers-Danlos syndrome

From: Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

 

Total

Males

Females

p-valueA

Patients < 18

Patients ≥ 18

p-valueB

N/T

%

N/T

%

N/T

%

 

N/T

%

N/T

%

 

Major Criteria

Generalized skin hyperextensibility plus extensive atrophic scarring

59/75

78.67

26/30

86.66

33/45

73.33

.274

24/31

77.41

35/44

79.54

.948

Generalized joint hypermobility (BS ≥ 5)

44/75

58.66

14/30

46.66

30/45

66.66

.138

19/31

61.29

25/44

56.81

.881

Minor Criteria

Easy bruising

65/75

86.66

25/30

83.33

40/45

88.88

.728

29/31

93.54

36/44

81.81

.181

Soft, doughy skin

59/75

78.66

24/30

80.00

35/45

77.77

.954

24/31

77.41

35/44

79.54

.948

Skin fragility (or traumatic splitting)

67/75

89.33

28/30

93.33

39/45

86.66

.593

30/31

96.77

37/44

84.09

.129

Molluscoid pseudotumors

22/75

29.33

13/30

43.33

9/45

20.00

.055

10/31

32.25

12/44

27.27

.834

Subcutaneous spheroids

18/65

27.60

8/24

33.33

10/41

24.39

.623

10/29

34.48

8/36

22.22

.412

Inguinal/umbilical/incisional hernia

27/75

36.00

10/30

33.33

17/45

37.77

.883

18/31

58.06

9/44

20.45

.002

Epicanthal folds

14/75

18.66

6/30

20.00

8/45

17.77

.951

10/31

32.25

4/44

9.09

.025

Complications of joint hypermobility (at least 1)

70/75

93.33

28/30

93.33

42/45

93.33

.636

28/31

90.32

42/44

95.45

.683

 Bilateral pes planus

62/75

82.66

25/30

83.33

37/45

82.22

.851

27/31

87.09

35/44

79.54

.588

 Sprains

34/75

45.33

17/30

56.66

17/45

37.77

.169

8/31

25.80

26/44

59.09

.008

 Pain

30/75

40.00

12/30

40.00

18/45

40.00

.809

3/31

9.67

27.44

61.36

.001

 Subdislocations

22/75

29.33

8/30

26.66

14/45

31.11

.876

6/31

19.35

16/44

36.36

.181

 Dislocations

16/75

21.33

9/30

30.00

7/45

15.55

.226

1/31

3.22

15/44

34.09

.001

 Two or more of these complications

41/70

58.57

19/28

67.85

22/42

52.38

.298

10/28

35.71

31/42

73.80

.003

Family history of a first degree relative who meets clinical criteria

42/75

56.00

17/30

56.66

25/45

55.55

.886

10/31

32.25

32/44

72.72

.001

Minimal Criteria

59/75

78.66

26/30

86.66

33/45

73.33

.274

24/31

77.41

35/44

79.54

.948

Major criterion 1 plus major criterion 2

37/75

49.33

13/30

43.33

24/45

53.33

.540

14/24

58.33

23/44

52.27

.822

Major criterion 1 plus at least 3 minor criteria

22/75

29.33

13/30

43.33

9/45

20.00

.055

10/24

41.566

12/44

27.27

.963

  1. Abbreviations: N number of patients presenting the investigated feature, T total number of patients in whom the feature was investigated
  2. Significant p-values < 0.05 are in bold
  3. A: p-values females vs males
  4. B: p-values patients < 18 years vs patients ≥18 years
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172