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Table 3 Clinicopathological findings in keratinopathic ichthyosis patient group

From: Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

Target Gene

Sample ID

Disease onset

Sex

Family history

Age at examination

Dermatological features

Extracutaneous findings

Histopathology/Immunopathology/Electron microscopyc

KRT1

ID-60

1 yr

M

Yesa

49 yrs

Hyperkeratosis, PP (++)

Bilateral syndactyly of the II/III toes

NA

KRT10

ID-61

Birth

F

NA

1 yr

NA

NA

NA

 

ID-62

NA

M

NA

2 yrs

Cutaneous erosions, hyperkeratosis over the joints, PP (++)

-

Keratinopathic ichthyosis

KRT2

ID-63

Birth

F

Yesb

27 yrs

Diffuse hyperkeratosis, particularly over the joints, few erosions, PP (+)

-

Keratinopathic ichthyosis

 

ID-64

NA

M

NA

36yrs

NA

NA

NA

  1. aMother and grandmother; bdaughter; NA not available, Yr(s) year(s), mo(s) month(s), PP palmoplantar involvement; (+) hyperlinearity; (++) mild/moderate keratoderma; (+++) pronounced keratoderma. cDiagnosis based on histopathological/immunohistochemical/ultrastructural findings