Table 2.
Main aspects of adult case studies mentioned in the text.
| References | Patients | SPINK5 mutation | Presentation | Therapy | |
|---|---|---|---|---|---|
| Sex | Age (years) | ||||
| Yalcin et al. (26) | M | 20 | – | SE | Omalizumab SC: 400 mg/kg |
| Barbieux et al. (7) | F | 29 | c.880_882del and c.1820 + 2T > A |
ILC | Ixekizumab SC: 160 mg at baseline, then 80 mg bi-monthly for 12 weeks, then 80 mg monthly for 12 weeks |
| M | 30 | c.238dup | SE | ||
| F | 20 | c.55 + 1G > A and c.2015 + 5G > A |
ILC | ||
SE, scaling erythroderma; ILC, ichthyosis linearis circumflexa; CI, congenital ichthyosis.