title: Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma.
abstract: Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by developmental defects and tumorigenesis. The clinical manifestations of NBCCS have been reported in large epidemiological studies from the United States, the United Kingdom, and Australia, but not from an Asian country. We conducted a nationwide survey and identified 311 NBCCS patients in Japan. We investigated the detailed clinical manifestations of 157 patients ranging in age from 9 months to 77 years old (mean: 33.1 years). We then compared the frequency and age of onset for various tumors developed in Japanese NBCCS patients with patients from the three countries listed above in which NBCCS studies were previously conducted. Our most significant finding was the low frequency of basal cell carcinoma (BCC) in Japanese patients. Frequency of BCC in patients over 20 years of age was 51.4%, a much lower rate compared to the United States, Australia, and the United Kingdom (91%, 85%, and 73%, respectively). The mean age of BCC onset was 37.4 years of age, a much older age compared to the above-mentioned countries. These findings suggest that differences in ethnicity and/or environmental factors affect the incidence of BCC. Because the age of BCC onset is generally higher in Japanese NBCCS patients, careful skin examination over a prolonged period of time is warranted.
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Mamiko
authors.initials: M
authors.lastname: Endo
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujii
authors.forename: Katsuo
authors.initials: K
authors.lastname: Sugita
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Kohno
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyashita
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001208:Asia; D001315:Australia; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000473:pathology; D002471:Cell Transformation, Neoplastic / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000453:epidemiology* / Q000473:pathology; D006113:United Kingdom; D014481:United States