No indications for HPV involvement in the hypertrophic skin lesions of a Darier disease case without ATP2A2 gene mutations
Darier disease (DD) is a relatively common genodermatosis characterized by impaired differentiation and abnormal cell-to-cell adhesion. Haploinsufficiency of the ATP2A2 gene product, sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2), is the underlying cause of most cases. Although DD may have a papillomatous appearance, few and controversial results have been reported about the role of human papillomavirus (HPV) in this disease. The aim of this study was to determine a possible correlation between development of hypertrophic lesions in DD and infection by HPV. We report the case of an 84-year-old woman with a hypertrophic DD variant that has been successfully treated with oral retinoids. HPV analysis for a broad spectrum of cutaneous and mucocutaneous genotypes was performed on surgical specimens obtained from the cutaneous lesions and snap-frozen plucked eyebrows. Genetic analysis of the ATP2A2 gene did not detect any mutations. Epidermal expression of SERCA2b was shown by immunohistochemistry. We describe a patient with DD lacking mutations of the ATP2A2 gene, but with reduced SERCA2b expression in the epidermal keratinocytes. The results obtained by polymerase chain reaction (PCR) genotyping, quantitative real-time PCR, and in situ hybridization indicate that HPV replication was very low and suggest no direct role of the virus in the development of the disease.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2009 |
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| Erschienen: |
2009 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:36 |
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| Enthalten in: |
Journal of cutaneous pathology - 36(2009), 9 vom: 01. Sept., Seite 1005-9 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Borgogna, Cinzia [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 27.10.2009 Date Revised 12.04.2019 published: Print Citation Status MEDLINE |
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| doi: |
10.1111/j.1600-0560.2009.01182.x |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM190632410 |
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| 100 | 1 | |a Borgogna, Cinzia |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a No indications for HPV involvement in the hypertrophic skin lesions of a Darier disease case without ATP2A2 gene mutations |
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| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Darier disease (DD) is a relatively common genodermatosis characterized by impaired differentiation and abnormal cell-to-cell adhesion. Haploinsufficiency of the ATP2A2 gene product, sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2), is the underlying cause of most cases. Although DD may have a papillomatous appearance, few and controversial results have been reported about the role of human papillomavirus (HPV) in this disease. The aim of this study was to determine a possible correlation between development of hypertrophic lesions in DD and infection by HPV. We report the case of an 84-year-old woman with a hypertrophic DD variant that has been successfully treated with oral retinoids. HPV analysis for a broad spectrum of cutaneous and mucocutaneous genotypes was performed on surgical specimens obtained from the cutaneous lesions and snap-frozen plucked eyebrows. Genetic analysis of the ATP2A2 gene did not detect any mutations. Epidermal expression of SERCA2b was shown by immunohistochemistry. We describe a patient with DD lacking mutations of the ATP2A2 gene, but with reduced SERCA2b expression in the epidermal keratinocytes. The results obtained by polymerase chain reaction (PCR) genotyping, quantitative real-time PCR, and in situ hybridization indicate that HPV replication was very low and suggest no direct role of the virus in the development of the disease | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a DNA, Viral |2 NLM | |
| 650 | 7 | |a Keratolytic Agents |2 NLM | |
| 650 | 7 | |a Sarcoplasmic Reticulum Calcium-Transporting ATPases |2 NLM | |
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| 700 | 1 | |a Mondini, Michele |e verfasserin |4 aut | |
| 700 | 1 | |a Valente, Guido |e verfasserin |4 aut | |
| 700 | 1 | |a Colombo, Enrico |e verfasserin |4 aut | |
| 700 | 1 | |a Weissenborn, Soenke |e verfasserin |4 aut | |
| 700 | 1 | |a Leigheb, Giorgio |e verfasserin |4 aut | |
| 700 | 1 | |a Landolfo, Santo |e verfasserin |4 aut | |
| 700 | 1 | |a Gariglio, Marisa |e verfasserin |4 aut | |
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