Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report.
Medicine (Baltimore)
; 103(9): e37335, 2024 Mar 01.
Article
in En
| MEDLINE
| ID: mdl-38428853
ABSTRACT
RATIONALE Darier 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 CONCERNS A 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. DIAGNOSES The patient was diagnosed as having DD. INTERVENTIONS:
Oral acitretin and topical corticosteroid hormone ointments were used.OUTCOMES:
The patient achieved complete resolution of symptoms during the 3-month follow-up period. LESSONS We 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.
Full text:
1
Database:
MEDLINE
Main subject:
COVID-19
/
Darier Disease
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Medicine (Baltimore)
Year:
2024
Type:
Article