Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection : A case report
Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:103 |
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| Enthalten in: |
Medicine - 103(2024), 9 vom: 01. März, Seite e37335 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Liu, Linli [VerfasserIn] |
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| Links: |
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| Themen: |
ATP2A2 protein, human |
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| Anmerkungen: |
Date Completed 04.03.2024 Date Revised 04.03.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.1097/MD.0000000000037335 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 245 | 1 | 0 | |a Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection |b A case report |
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| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a DIAGNOSES: The patient was diagnosed as having DD | ||
| 520 | |a INTERVENTIONS: Oral acitretin and topical corticosteroid hormone ointments were used | ||
| 520 | |a OUTCOMES: The patient achieved complete resolution of symptoms during the 3-month follow-up period | ||
| 520 | |a 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 | ||
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| 700 | 1 | |a Yu, Chunshui |e verfasserin |4 aut | |
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