Affiliation:
1. Kazan State Medical University.
2. Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University.
Abstract
Tuberous sclerosis is a multisystem genetic disorder caused by unregulated activation of a mammalian rapamycin target (mTOR), leading to the growth of hamartomas in various organs. Skin lesions associated with tuberous sclerosis often develop at early age, which is an important diagnostic criterion. It is the pediatricians who can contribute to an early diagnostic process, to develop treatment strategy and create follow-up care for patients. Possible treatment options for skin lesions due tuberous sclerosis include pharmacological (e.g. local or systemic mTOR inhibitors) and non-pharmacological (surgical removal, laser therapy) methods.
Publisher
The National Academy of Pediatric Science and Innovation
Subject
Pediatrics, Perinatology and Child Health
Reference44 articles.
1. Budde K., Gaedeke J. Tuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. Am J Kidney Dis 2012; 59(2): 276–283. DOI: 10.1053/j.ajkd.2011.10.013
2. Osborne J.P., Fryer A., Webb D. Epidemiology of tuberous sclerosis. Ann N.Y. Acad Sci 1991; 615: 125–127. DOI:10.1111/j.1749-6632.1991.tb37754.x
3. Tuberous Sclerosis. Diagnosis and Treatment. M.Yu.Dorofeeva (ed.). Moscow: ADARE 2017; 288. (in Russ)
4. Volgina S.Ya., Yurov I.Yu., Belogurova M.B., Belousova E.D., Vakhitov Kh.M., Voinova V.Yu. et al. Rare diseases in children. Monograph. S.Ya. Volgina, I.Ju. Jurov ( eds). Kazan’: Meditsina 2018; 206. (in Russ)
5. Belousova E.D., Vlodavets D.V., Pivovarova A.M., Katysheva O.V., Dorofeeva M.Yu. Targeted therapy for tuberous sclerosis complex. Ros Vestn Perinatol i Pediatr (Russian Bulletin of Perinatology and Pediatrics) 2016; 61(5): 106–112. (in Russ) DOI: 10.21508/1027-4065-2016-61-5-106-112
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