title: No association between Birt-Hogg-Dubé syndrome skin fibrofolliculomas and the first 10 described human polyomaviruses or human papillomaviruses.
abstract: The rare autosomal dominant condition Birt-Hogg-Dubé syndrome (BHD) is attributed to mutations on chromosome 17 in the folliculin (FLCN) gene, but not always diagnosed due to lack of, or a variety of symptoms such as fibrofolliculomas, lung cystic lesions, spontaneous pneumothorax and renal cancer. We hypothesized that the lack of or variability in symptoms could be due to BHD patients potentially being abnormally susceptible to infections with human papillomavirus (HPV) or human polyomavirus (HPyV), which can be associated with skin lesions or latency in the kidneys. Seven fibrofolliculoma skin lesions, one renal cancer and one lung cyst from nine patients with BHD treated at the Karolinska University Hospital were therefore analyzed for cutaneous and mucosal HPV types and 10 HPyVs by bead based multiplex assays or by PCR. All samples were negative for viral DNA. In conclusion, the data suggest that HPV and HPyVs do not contribute to BHD pathology.
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Dermatology and Venereology, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Maria
authors.initials: M
authors.lastname: Bradley
authors.affiliation: Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska, R8:01 Karolinska University Hospital, 171 76 Stockholm, Sweden.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Nordfors
authors.affiliation: Department of Clinical Science, and Intervention and Technology, Karolinska Institutet, Stockholm, Sweden; Department of Ear Nose and Throat, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Andrea
authors.initials: A
authors.lastname: Vlastos
authors.affiliation: Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden; Department of Lung and Allergy, Karolinska University Hospital, Stockholm, Sweden; Department of Internal Medicine, University of Perugia, Perugia, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ferrara
authors.affiliation: Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska, R8:01 Karolinska University Hospital, 171 76 Stockholm, Sweden.
authors.forename: Torbjörn
authors.initials: T
authors.lastname: Ramqvist
authors.affiliation: Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska, R8:01 Karolinska University Hospital, 171 76 Stockholm, Sweden. Electronic address: Tina.Dalianis@ki.se.
authors.forename: Tina
authors.initials: T
authors.lastname: Dalianis
mesh_terms: D000328:Adult; D000368:Aged; D058249:Birt-Hogg-Dube Syndrome / Q000821:virology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011120:Polyomavirus / Q000145:classification* / Q000302:isolation & purification*; D027601:Polyomavirus Infections / Q000175:diagnosis / Q000821:virology*; D014412:Tumor Virus Infections / Q000175:diagnosis / Q000821:virology*
keywords: Birt–Hogg–Dubé syndrome; Fibrofolliculomas; Human papillomavirus; Human polyomavirus; Pneumothorax; Renal cancer