Table 1 Darier Disease patient characteristics and treatments
Patient No./age/sex | Heterogenous ATP2A2 mutation | Phenotype/disease severitya | Complications | Prior therapies | Increased cytokineb | Current therapy |
|---|---|---|---|---|---|---|
PAT1/26-30/f | c.215 C > A, (p.Ser72Tyr) | Severe | recurrent bacterial cutaneous superinfections | topical steroids, antiseptics, systemic therapy with isotretinoin 06/18-02/19 (no beneficial effect) | IL23A | systemic therapy with guselkumab since 11/21 |
PAT2/41-45/m | c.1184 T > G, (p.Val395Gly) | Severe | recurrent bacterial cutaneous superinfections | topical steroids, antiseptics, systemic therapy with acitretin 08/17-09/17, 04/21–09/21 (no benefit), CO2 laser on legs (temporary benefit) | IL17A | systemic therapy with secukinumab since 12/21 |
PAT4/46-50/m | c.2305 G > A (p.Gly769Arg) | Moderate | recurrent HSV infections and bacterial cutaneous infections | topical steroids, antiseptics, systemic therapy with acitretin 12/18-07/19 (no benefit), CO2 laser on legs (temporary benefit) | IL17A | topical steroids, antiseptics |
PAT5/21-25/f | c.392 G > A p.(Arg131Gln) | Severe | recurrent bacterial cutaneous superinfections | no topical or systemic therapy | IL17A | loss of follow up |
PAT7/56-60/m | c.224delT p.(Leu75Trpfs*15) | Severe | recurrent bacterial cutaneous superinfections | topical steroids, antiseptics | IL17A | systemic therapy with acitretin since 09/22 |
PAT9/46-50/f | c.1287+1delG splice mutation | Severe | recurrent bacterial cutaneous superinfections depression | topical steroids, antiseptics, systemic therapy with isotretinoin 01/08-09/22 (temporary benefit) | IL17A | systemic therapy with secukinumab since 11/22 |
