The cutaneous manifestations of tuberous sclerosis complex

QBD Nguyen, MD DarConte… - American Journal of …, 2018 - Wiley Online Library
QBD Nguyen, MD DarConte, AA Hebert
American Journal of Medical Genetics Part C: Seminars in Medical …, 2018Wiley Online Library
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 …
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.
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