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

^aNo standardized assessment scale has been validated to date for DD. The disease was considered severe if the patient had a body surface area (BSA) > 35%, moderate if BSA was 10–35%.

^bCytokine that has been shown to be increased in the patient’s lesional skin.