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 |