perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2018-63-5-222-230perinatology-755Research ArticleВ ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУGUIDELINES FOR THE PRACTITIONERУЧАСТИЕ ВРАЧА-ПЕДИАТРА ПЕРВИЧНОГО ЗВЕНА В РАННЕЙ ДИАГНОСТИКЕ И ЛЕЧЕНИИ ТУБЕРОЗНОГО СКЛЕРОЗА У ДЕТЕЙPARTICIPATION OF A PRIMARY PEDIATRICIAN IN THE EARLY DIAGNOSTICS AND TREATMENT OF TUBEROUS SCLEROSIS IN CHILDRENhttps://orcid.org/0000-0002-4147-2309ВолгинаС. Я.VolginaS. A.

д.м.н., проф. кафедры госпитальной педиатрии.

https://orcid.org/0000-0001-7879-315XДорофееваМ. Ю.DorofeevaM. Yu.

к.м.н., вед. научн. сотр. отдела психоневрологии и эпилептологии.

Казанский государственный медицинский университет Минздрава России.РоссияKazan State Medical University.Russian FederationОСП «Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РФ.РоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University.Russian Federation201820112018635222230Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20182018Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/755

Туберозный склероз представляет собой полисистемное генетическое расстройство, вызванное нерегулируемой активацией мишени рапамицина млекопитающих (mTOR), что приводит к росту гамартом в различных органах. Повреждения кожи, связанные с туберозным склерозом, часто развиваются в раннем возрасте, что является важным диагностическим критерием. Именно педиатры могут способствовать скорейшему диагностическому процессу, осуществлению разработки стратегии лечения и созданию последующего ухода за пациентами. Диапазон возможных вариантов лечения поражений кожи при туберозном склерозе включает фармакологические (например, местные или системные ингибиторы mTOR) и нефармакологические (хирургическое удаление, лазерную терапию) методы.

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.

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The authors declare that there are no conflicts of interest present.