Table 3

Summary of the main characteristics of patients (with TINF2 mutations) in this study group compared with patients with DC in general

Clinical featureNo. index patients in this studyPercentage of patients in this studyPercentage of patients reported in DC16 
AA at any age 32 97 86 
AA at < 10 y 21 63 51 
Nail dystrophy 29 88 88 
Abnormal skin pigmentation 19 58 89 
Leukoplakia 19 58 78 
Classical triad 12 36 NA 
Features of HH 18 NA 
Osteoporosis 18 NA 
Retinopathy (Revesz syndrome) 12 NA 
Clinical featureNo. index patients in this studyPercentage of patients in this studyPercentage of patients reported in DC16 
AA at any age 32 97 86 
AA at < 10 y 21 63 51 
Nail dystrophy 29 88 88 
Abnormal skin pigmentation 19 58 89 
Leukoplakia 19 58 78 
Classical triad 12 36 NA 
Features of HH 18 NA 
Osteoporosis 18 NA 
Retinopathy (Revesz syndrome) 12 NA 

Classical triad indicates combination of nail dystrophy, abnormal skin pigmentation, and leukoplakia; NA, data not available.

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