التفاصيل البيبلوغرافية
| العنوان: |
No indications for HPV involvement in the hypertrophic skin lesions of a Darier disease case without ATP2A2 gene mutations. |
| المؤلفون: |
Borgogna, Cinzia, Zavattaro, Elisa, Dell'Oste, Valentina, Mondini, Michele, Valente, Guido, Colombo, Enrico, Weissenborn, Soenke, Leigheb, Giorgio, Landolfo, Santo, Gariglio, Marisa |
| المصدر: |
Journal of Cutaneous Pathology; Sep2009, Vol. 36 Issue 9, p1005-1009, 5p, 3 Color Photographs, 1 Chart |
| مصطلحات موضوعية: |
PAPILLOMAVIRUSES, KERATOSIS follicularis, HYPERTROPHIC scars, ADENOSINE triphosphate, IMMUNOHISTOCHEMISTRY |
| مستخلص: |
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 Ca2+ 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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
