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- Publisher
- Wiley
- Copyright
- © 2018 Wiley Periodicals, Inc.
- ISSN
- 1552-4868
- eISSN
- 1552-4876
- DOI
- 10.1002/ajmg.c.31649
- Publisher site
- See Article on Publisher Site
Abstract
Tuberous sclerosis complex (TSC) is a genetic multisystem disease with variable manifestations that can prominently involve the skin. The diagnosis of this disorder has evolved over the past two centuries. The 2012 TSC criteria emphasizes the importance of dermatological findings; orocutaneous manifestations account for 4 of 11 major criterion and 3 of 6 minor criterion. A detailed clinical dermatological evaluation is recommended for both pediatric and adult patients undergoing initial evaluation for TSC. Comprehensive dermatologic evaluation is extremely helpful when assessing these lesions and constructing a differential diagnosis.
Journal
American Journal of Medical Genetics – Wiley
Published: Sep 1, 2018