• Linli Liu, Xiaotao Zheng, Qinglian Lu, and Chunshui Yu.
• Department of Dermatology, Suining Central Hospital, Suining, Sichuan, People's Republic of China.
• Medicine (Baltimore). 2024 Mar 1; 103 (9): e37335e37335.

RationaleDarier disease (DD) is a rare autosomal dominant disorder that primarily manifests as hyperkeratotic papules and itching. The underlying etiology of DD is pathogenic variation in the ATP2A2 gene. However, this disease has a high penetrance but variable expressivity, indicating that patients inheriting the genotype may have different manifestations due to exogenous factors. Meanwhile, a few reports have documented that COVID-19 may be implicated in the flare of DD.Patient ConcernsA 51-year-old man presented with keratotic papules and scaly erythematous rash on his trunk with pruritus after being infected with COVID-19. Laboratory test results were normal. Histological analysis revealed epidermal hyperkeratosis and intraepidermal lacunae containing dyskeratinized cells. Genetic analysis revealed a novel variant of ATP2A2 (c.815G>A, p.Trp272*), which was considered pathogenic in this case.DiagnosesThe patient was diagnosed as having DD.InterventionsOral acitretin and topical corticosteroid hormone ointments were used.OutcomesThe patient achieved complete resolution of symptoms during the 3-month follow-up period.LessonsWe revealed the first novel ATP2A2 variant (c.815G>A, p.Trp272*) in the flare of DD following COVID-19 infection. Additionally, this pathogenic variant enriches the ATP2A2 gene mutation spectrum.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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