Markedly improved disease control in Darier disease (ATP2A2-nonsyndromic epidermal differentiation disorder) with ustekinumab versus other biologics: a case series.

In this case series, we report six patients with severe, treatment-refractory Darier disease, or dyskeratosis follicularis, also known as ATP2A2-nEDD (nonsyndromic epidermal differentiation disorder), treated with off-label biologic therapy, including dupilumab (n = 3), secukinumab followed by guselkumab (n = 1), and ustekinumab (n = 2). All patients had longstanding disease with recurrent flares, frequent infections and substantial impairment of quality of life, despite multiple conventional treatments. All biologic treatments were well tolerated, with no serious adverse events. Dupilumab consistently improved pruritus but had limited effects on skin lesions. Secukinumab and guselkumab provided only transient or partial disease control. In contrast, both patients treated with ustekinumab achieved pronounced and sustained clinical improvement, with markedly reduced disease severity and pruritus, and considerable improved quality of life. The pronounced and sustained responses observed with ustekinumab support its prioritization for future studies in Darier disease.

Abstract from PubMed