title: No indications for HPV involvement in the hypertrophic skin lesions of a Darier disease case without ATP2A2 gene mutations.
abstract: 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.
authors.affiliation: Department of Clinical and Experimental Medicine, Medical School of Novara, University of Piemonte Orientale Amedeo Avogadro, Novara, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Borgogna
authors.forename: Elisa
authors.initials: E
authors.lastname: Zavattaro
authors.forename: Valentina
authors.initials: V
authors.lastname: Dell'Oste
authors.forename: Michele
authors.initials: M
authors.lastname: Mondini
authors.forename: Guido
authors.initials: G
authors.lastname: Valente
authors.forename: Enrico
authors.initials: E
authors.lastname: Colombo
authors.forename: Soenke
authors.initials: S
authors.lastname: Weissenborn
authors.forename: Giorgio
authors.initials: G
authors.lastname: Leigheb
authors.forename: Santo
authors.initials: S
authors.lastname: Landolfo
authors.forename: Marisa
authors.initials: M
authors.lastname: Gariglio
mesh_terms: D017255:Acitretin / Q000627:therapeutic use; D000369:Aged, 80 and over; D004279:DNA, Viral / Q000032:analysis; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology* / Q000821:virology*; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D015603:Keratinocytes / Q000378:metabolism; D007641:Keratolytic Agents / Q000627:therapeutic use; D030361:Papillomavirus Infections / Q000150:complications*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D004279:DNA, Viral; D007641:Keratolytic Agents; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D017255:Acitretin