The cutaneous manifestations of tuberous sclerosis complex

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 manif...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2018-09, Vol.178 (3), p.321-325
Main Authors: Nguyen, Quoc‐Bao D., DarConte, Mary D., Hebert, Adelaide A.
Format: Article
Language:English
Subjects:
Criteria
Diagnosis
Differential diagnosis
Genetics
Lesions
Tuberous sclerosis
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Summary: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.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31649