Table 1.
Clinical Characteristics | Clinical features in the present study | First family reported by Basel-Vanagaite et al. [9] | Clinical findings of a child described by Avrahami et al. [21] |
---|---|---|---|
Skin abnormalities: vernix-like scaling, ichthyosis | + | + | + |
Scalp hair: light brown, curly, coarse; improving with age | + | + | + |
Woolly scalp hair | + | − | − |
Eyebrows and eyelashes: Sparse, curly, light-coloured | + | + | + |
Eyes: photophobia, corneal opacity | − | + | − |
Blepharitis | − | − | + |
Teeth: notching | − | + | − |
Body hair: sparse | + | + | + |
+: presence of feature; −: absence of feature.