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Consensus Statement |

Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements

Joyce M. C. Teng, MD, PhD1; Edward W. Cowen, MD, MHSc2; Mari Wataya-Kaneda, MD, PhD3; Elizabeth S. Gosnell, DMD4; Patricia M. Witman, MD5; Adelaide A. Hebert, MD6; Greg Mlynarczyk, DDS7; Keyoumars Soltani, MD8; Thomas N. Darling, MD, PhD9
[+] Author Affiliations
1Department of Dermatology, Stanford University School of Medicine, Stanford, California
2Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland
3Department of Dermatology, Graduate School of Medicine, Osaka University, Osaka, Japan
4Division of Pediatric Dentistry and Orthodontics, Cincinnati Children’s Hospital, Cincinnati, Ohio
5Division of Dermatology, Department of Pediatrics, Nationwide Children’s Hospital and Ohio State University, Columbus
6Departments of Dermatology and Pediatrics, University of Texas–Houston Medical School, Houston
7Santa Rosa Family and Cosmetic Dentistry, Santa Rosa, California
8Section of Dermatology, Department of Medicine, University of Chicago, Chicago, Illinois
9Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland
JAMA Dermatol. 2014;150(10):1095-1101. doi:10.1001/jamadermatol.2014.938.
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Importance  The 2012 International Tuberous Sclerosis Complex Clinical Consensus Conference was convened to update the last consensus statement in 1998. Skin and dental lesions are common in tuberous sclerosis complex (TSC) and are a frequent concern for patients. Recognition of these lesions is imperative for early diagnosis, given the treatment advances that may improve patient outcomes.

Objective  To detail recommendations for the diagnosis, surveillance, and management of skin and dental lesions in TSC.

Evidence Review  The TSC Dermatology and Dentistry Subcommittee, 1 of 12 subcommittees, reviewed the relevant literature from 1997 to 2012.

Findings  A consensus on skin and dental issues was achieved within the Dermatology and Dentistry Subcommittee before recommendations were presented, discussed, and agreed on in a group meeting of all subcommittees from June 14 to 15, 2012.

Conclusions and Relevance  Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.

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Figure.
Representative Skin and Oral Lesions in Tuberous Sclerosis Complex

A, Multiple facial angiofibromas; B, fibrous cephalic plaque; C, hypomelanotic macule and confetti-like hypopigmentation; D, ungual fibromas; E, shagreen patch; and F, gingival fibromas and dental pitting.

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