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 microscopyd |
---|---|---|---|---|---|---|---|---|
STS | ID-47 | NA | M | Yesa | 17 yrs | Brown scales | - | NA |
ID-48 | NA | M | Yesa | 16 yrs | Brown scales | - | NA | |
ID-49 | 1 yr | M | Yesb | 8 yrs | Brownish polygonal scales, sparing of folds | - | ARCI | |
ID-50 | NA | M | NA | 3 yrs | NA | NA | NA | |
ID-51 | NA | M | NA | 10 yrs | NA | NA | NA | |
ID-52 | Birth, collodion | M | Yesa | 5 mos | Fine scales on the trunk and brownish on the arms and legs, residue of collodion membrane, PP (+) | Failure to thrive | Undefined | |
ID-53 | Birth | M | No | 16 yrs | Brownish scales on legs and arms, large scales on the trunk, sparing of folds, involvement of the scalp | - | ARCI | |
ID-54 | 1 yr | M | No | 18 mos | Small and medium brownish scales, sparing of folds | - | X-linked | |
ID-55 | 3wks | M | Yesc | 12 mos | Medium scales and onychodystrophy, PP (+) | - | X-linked | |
ID-56 | NA | M | NA | 12 yrs | Brown scales | Learning disabilities | NA | |
ID-57 | Birth | M | No | 1yr | Brown scales | Cystine calculi, behavioural anomalies | NA | |
ID-58 | Birth | M | No | 6 yrs | Small and medium brown scales, sparing of antecubital and popliteal areas | Hyperactivity | Ichthyosis vulgaris | |
ID-59 | NA | M | No | 3 yrs | Brownish scales | Autistic behaviour and language delay | NA |