| Literature DB >> 30246432 |
Quoc-Bao D Nguyen1, Mary D DarConte1, Adelaide A Hebert1.
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.Entities:
Keywords: tuberous sclerosis
Mesh:
Year: 2018 PMID: 30246432 DOI: 10.1002/ajmg.c.31649
Source DB: PubMed Journal: Am J Med Genet C Semin Med Genet ISSN: 1552-4868 Impact factor: 3.908