Table 2 Demographic and clinical information from patients of the literature and our cohort.

From: Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

 

n (mean, range)

%

 

n

%

 

n

%

Patients

178

–

Dysmorphic features

117

65.7%

Musculoskeletal

61

34.3%

 Consanguinity

81

46.0%

 Hypertelorism

62

34.8%

 Hand/feet anomalies

24

13.5%

 Deceased

20

11.4%

 Proptosis

32

18.0%

 Other limb anomalies

10

5.6%

Gender

167

93.8%

 Saddle nose

25

14.0%

 Osteopenia

13

7.3%

 Female

85

50.9%

 Low hairline

21

11.8%

 Hypermobility

13

7.3%

 Male

82

49.1%

 Poliosis

19

10.7%

 Arthritis

9

5.1%

Age (years)

(19.3, 0.3–64)

92.6%

 Low nasal root

17

9.6%

Hematologic

70

39.3%

 Age of onset (years)

(5.5, 0.0–30.0)

75.6%

 Frontal bossing

15

8.4%

 Anemia

53

29.8%

 Diagnostic delay (years)

(11.7, 0.0–41.75)

57.4%

 High/ogival palate

13

7.3%

 Thrombocytopenia

32

18.0%

Diagnosis

  

 Micrognathia

13

7.3%

 Pancytopenia

9

5.1%

 Imidodipeptiduria

124

69.7%

 Lip dysmorphism

12

6.7%

Immune

  

 Low prolidase activity

93

52.2%

 Ear dysmorphisms

9

5.1%

 Frequent infections

86

48.3%

 PEPD variants

96

53.9%

Ocular anomalies

26

14.6%

 Autoimmune disease

22

12.4%

Growth parameters

  

ENT/Dental

  

 Lupus (SLE)

10

5.6%

 Failure to thrive

25

14.0%

 Chronic sinusitis

16

9.0%

 Rhupus

3

1.7%

 Overweight/obesity

16

9.0%

 Dental anomalies

21

11.8%

 Partial lupus

5

2.8%

 Short stature

22

12.4%

Thoracic

  

 Autoantibodies

36

20.2%

 Microcephaly

9

5.1%

 Chronic lung disease

22

12.4%

 Hyper IgE

9

5.1%

Dermatologic

148

83.1%

 Asthma

13

7.3%

 Other hyper Ig

26

14.6%

 Ulcers

111

62.4%

 Digital clubbing

13

7.3%

 Other immune

7

3.9%

 Ulcer infections

30

16.9%

Gastrointestinal

  

Endocrine

8

4.5%

 Scarring

53

29.3%

 Hepatomegaly

24

13.5%

 Delayed puberty

5

2.8%

 Rash

49

27.5%

 Liver disease

8

4.5%

   

 Telangiectasias

39

21.9%

 Elevated transaminases

12

6.7%

   

 Eczema

28

15.7%

 Splenomegaly

80

44.9%

   

 Xerosis

23

12.9%

 Diarrhea

19

10.7%

   

 Crusting

20

11.2%

 Autoimmune gastroenteropathy

5

2.8%

   

 Hyperkeratosis

17

9.6%

Renal

14

7.9%

   

 Pigmentary changes

16

9.0%

Urogenital

4

2.2%

   

 Edema

13

7.3%

Neurologic

108

60.7%

   

 Pruritus

13

7.3%

 DD/ID/LD

104

58.4%

   

 Visible veins/livedo

9

5.1%

 Hypotonia

9

5.1%

   
  1. Reported in ≤5%: tall stature, thin skin, purpura, Raynaud phenomenon, acrocyanosis, nail anomalies, craniosynostosis or other suture anomalies, narrow or large palpebral fissures, epicanthal folds, cleft lip/palate, prognathism, neck anomalies, hearing loss, thoracic cage anomalies, pulmonary embolism, cardiovascular anomalies, hypertension, jaundice, seizures, neuropathy, talipes, genu valgum, spina bifida, scoliosis, contractures, hemolysis, coagulation anomalies, psychiatric disorder.
  2. DD/ID/LD developmental delay/intellectual disability/learning difficulties, ENT ear, nose, and throat, hyper Ig hyperimmunoglobulinemia, hyper IgE hyperimmunoglobulinemia E, SLE systemic lupus erythematosus.
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