Patricia M. Witman

BACKGROUND: Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices. METHODS: The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 separate subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important clinical management implications and was charged with formulating key clinical questions to address within its focus area, reviewing relevant literature, evaluating the strength of data, and providing a recommendation accordingly. RESULTS: The updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established. CONCLUSIONS: The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.

BACKGROUND AND OBJECTIVE: Pulsed dye laser (PDL) has been reported to be safe and effective in the management of superficial hemangiomas of infancy. We report 12 patients with hemangiomas with complications following PDL. STUDY DESIGN/MATERIALS AND METHODS: Records of patients with hemangiomas and a known adverse outcome following PDL were reviewed. RESULTS: All were treated early (age range: 5 days to 4 months), and all hemangiomas were facial with a superficial component. Eleven were treated with a 585 nm wavelength, fluence range of 4.7-7 J/cm(2), without dynamic cooling. One patient received 7-12 J/cm(2) utilizing a 595 nm wavelength with dynamic cooling. In eight cases, treatment led to severe ulceration with subsequent pain, scarring, and in one instance, life-threatening hemorrhage. In four, permanent atrophic scarring was noted without ulceration. CONCLUSIONS: PDL treatment of superficial hemangiomas may rarely lead to significant complications including atrophic scarring and severe ulceration.

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.