Original Paper

Prevalence of Tuberous Sclerosis Complex in Taiwan: A National Population-Based Study
Chien-Hui Hong^b, Thomas N. Darling^c, Chih-Hung Lee<sup>a

a</sup>Department of Dermatology, Kaohsiung Medical University Hospital and Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung Medical University College of Medicine, Kaohsiung, and
^bDepartment of Dermatology, Kaohsiung General Veterans Hospital, Kaohsiung, and Tainan Hospital, Executive Yuan, Tainan, Taiwan, ROC;
^cDepartment of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Md., USA

Address of Corresponding Author

Neuroepidemiology 2009;33:335-341 (DOI: 10.1159/000254569)

  Key Words

• Sclerosis complex, tuberous
• Hamartoma, benign
• Angiofibroma, facial

  Abstract

Background/Aims: 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. Conclusion: The low prevalence of TSC in Taiwan might result from differences in penetrance, family planning, ethnic groups, and disease-modifying genes.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Chih-Hung Lee, MD, Department of Dermatology, Kaohsiung Medical University
Hospital and Kaohsiung Municipal Hsiao-Kang Hospital
Kaohsiung Medical University College of Medicine
100 Shih-Chuan 1st Road, Kaohsiung 807, Taiwan (ROC)
Tel +886 7 312 1101/ext. 6105, Fax +886 7 311 8901, E-Mail dermlee@gmail.com

  Article Information

Received: March 16, 2009
Accepted: June 29, 2009
Published online: November 4, 2009
Number of Print Pages : 7
Number of Figures : 2, Number of Tables : 3, Number of References : 21