Tuberous Sclerosis (Bourneville-Pringle). Literature Review
TLDR Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
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.
