دورية أكاديمية

No indications for HPV involvement in the hypertrophic skin lesions of a Darier disease case without ATP2A2 gene mutations

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 ; volume 36, issue 9, page 1005-1009 ; ISSN 0303-6987 1600-0560
بيانات النشر: Wiley
سنة النشر: 2009
المجموعة: Wiley Online Library (Open Access Articles via Crossref)
الوصف: 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.
نوع الوثيقة: article in journal/newspaper
اللغة: English
DOI: 10.1111/j.1600-0560.2009.01182.x
الإتاحة: https://doi.org/10.1111/j.1600-0560.2009.01182.xTest
حقوق: http://onlinelibrary.wiley.com/termsAndConditions#vorTest
رقم الانضمام: edsbas.C460DDF4
قاعدة البيانات: BASE