title: Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study.
abstract: OBJECTIVE
  Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes. Previous studies have estimated the prevalence of TSC to be 1:8,000 to 1:30,000. The numbers of patients and the populations accessed in these studies are relatively small. The aim of this study is to evaluate the prevalence of TSC in Taiwan with a population of 23 million people.
  
  
  METHODS
  95% of Taiwanese are enrolled in a single national health insurance database. This study uses this database to estimate the prevalence of TSC in a large Chinese population.
  
  
  RESULTS
  The prevalence of TSC in Taiwan is estimated at 1:95,136. There is no prevalence difference in rural or urban areas. The ages of the patients ranges from 3 months to 75 years, with a mean of 14 +/- 11 years. Prevalence by age is 1:14,608, 1:18,851, and 1:24,617 for ages <6, 12, and 18 years, respectively. Only 15% of patients disclose a family history of TSC. The majority of cases (71.2%) are diagnosed in an outpatient visit by a pediatrician.
  
  
  CONCLUSIONS
  The low prevalence of TSC in Taiwan might result from differences in penetrance, family planning, ethnic groups, and disease-modifying genes.
authors.affiliation: Department of Dermatology, Kaohsiung Medical University Hospital and Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung Medical University College of Medicine, Kaohsiung 807, Taiwan, ROC.
authors.forename: Chien-Hui
authors.initials: CH
authors.lastname: Hong
authors.forename: Thomas N
authors.initials: TN
authors.lastname: Darling
authors.forename: Chih-Hung
authors.initials: CH
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011156:Population Density; D011159:Population Surveillance; D015995:Prevalence; D013624:Taiwan / Q000453:epidemiology; D014402:Tuberous Sclerosis / Q000453:epidemiology*; D055815:Young Adult