Tuberous Sclerosis (Bourneville-Pringle). Literature Review
New to Rapamycin? There is a guide in the encyclopedia. Read the guide → Studysummary This literature review highlights the critical importance of early dermatological diagnosis of tuberous sclerosis, focusing on its genetic basis, dermatological markers, and the role of genetic testing and multidisciplinary support, while discussing treatment options like mTOR inhibitors and their limitations.
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This literature review on tuberous sclerosis highlights the genetic basis (TSC1/TSC2), clinical polymorphism, and dermatological markers such as hypomelanotic patches and angiofibromas. It emphasizes the evolution of diagnostic criteria and the crucial role of dermatologists in early detection. A retrospective search of international and Russian databases from 2014 to 2024 selected 32 full-text publications. The review discusses long-term patient management, laser and surgical techniques, and the use of mTOR inhibitors (topical sirolimus/rapamycin, systemic everolimus) for skin manifestations, noting their effectiveness and safety limitations. The study concludes that early dermatological diagnosis, genetic testing validation, and personalized, multidisciplinary care are vital throughout a patient's life.
