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Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations., Methods: Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required., Results: Only two changes were made to clinical diagnostic criteria reported in 2013: "multiple cortical tubers and/or radial migration lines" replaced the more general term "cortical dysplasias," and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSC-associated neuropsychiatric disorders, and new medication approvals., Conclusions: Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: The purpose of this descriptive study was to describe oral manifestations and oral health quality of life (QOL) in children aged six months to six years, 11 months with tuberous sclerosis complex (TSC). Methods: Parents of participants completed an oral health QOL survey. The presence of oral lesions associated with TSC was assessed. Results: Sixty-two participants enrolled between February 2015 and March 2017. Among the significant oral health findings, 11 (17.7 percent) had enamel pitting, 33 (53 percent) had no previous dental examination, eight (12.9 percent) did not brush their teeth, and eight (12.9 percent) had caries present. Per the QOL survey results, 18 (31 percent) had difficulty sleeping, 22 (37.3 percent) experienced irritability/frustration, and 15 (29.4 percent) had difficulty pronouncing words. Developmental delays were present in 40 (70.2 percent), seizures occurred within the last three months in 37 (59.7 percent), and a mammalian target of rapamycin inhibitor medication was used for 22 (35.4 percent). Conclusions: Enamel pitting was observed in 17.7 percent of children in the primary dentition. Oral health quality of life in this tuberous sclerosis complex cohort was significantly reduced.

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.