Table 2.
Clinical features observed in the patients carrying a PNPLA1 mutation
| Reference | Consanguinity | Collodion membrane | Ectropion | Erythema | White scaling | Hair | Nail/teeth | Palmoplantar keratoderma | Pruritus | Impaired sweat |
|---|---|---|---|---|---|---|---|---|---|---|
| This report (family A) | + | − | − | + | NA | − | − | − | − | − |
| This report (family B) | + | NA | − | + | NA | − | − | NA | NA | + |
| Grall et al., 2012 | + | + | NA | + | + | NA | NA | Mild | NA | NA |
| Fachal et al., 2014 | + | + | − | + | + | NA | NA | NA | NA | + |
| Ahmad et al., 2016 | + | NA | − | + | NA | − | − | NA | NA | + |
| Lee et al., 2017 | + | + | − | + | + | − | NA | NA | NA | NA |
| Vahidnezhad et al., 2016 | + | +/− | + | + | + | NA | + | + | NA | NA |
| Zimmer et al., 2017 | +/− | +/− | + | + | NA | − | + | +/− | + | |
| Boyden et al., 2017 | + | Mild/− | + | + | NA | NA | Mild/− | NA | NA | |
| Dökmeci-Emre et al., 2016 | + | + | + | + | +/− | NA | +/− | + | − | +/− |
| Diociaiuti et al., 2017 | − | NA | NA | + | − | NA | − | + | NA | + |
| Zhao et al., 2017 | + | NA | NA | NA | +/− | NA | NA | NA | NA | NA |
| Esperón-Moldes et al., 2019 | +/− | +/− | +/− | +/− | +/− | NA | NA | +/− | NA | +/− |
NA, not available. +, present; −, absent, +/−, present or absent.