Tuberous sclerosis: features of the clinical course and prevalence in Western Siberia


Yu.V. Maksimova, A.V. Demchenko, N.A. Chupyrko, M.A. Vasilyeva, V.N. Maksimov, E.V. Svechnikova

1) City Clinical Hospital № 1, Novosibirsk, Russia; 2) Novosibirsk State Medical University, Novosibirsk, Russia; 3) Research Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; 4) Polyclinic №1 of the Administrative Department of the President of the Russian Federation, Moscow, Russia
Background. Every year there are more and more effective drugs, including those for the treatment of orphan diseases. One such disease is tuberous sclerosis (TS). However, doctors must be well aware of the clinical manifestations at the initial stages of the development of the disease in order to prescribe timely treatment for patients. All this together makes the evaluation of the prevalence and characteristics of the course of TS in the population of residents of the Novosibirsk Region an urgent problem.
Objective. Evaluation of the prevalence of tuberous sclerosis, the features of clinical manifestations of the disease in patients from the Novosibirsk Region population, including the city of Novosibirsk.
Methods. Retrospective analysis of proband medical records with an confirmed clinical diagnosis of TS at the Clinical Department of the Medical Genetic Division of the City Clinical Hospital № 1 for 11 years from 2011 to 2021 was performed. The diagnosis of TS was made using the diagnostic criteria recommended by the 2012 International Tuberous Sclerosis Consensus Conference.
Results. Over the past 11 years, 41 patients with TS have been followed-up in the Medical Genetic Division. The prevalence of TS in the Novosibirsk Region was 1:67947 of the population. 12 patients had relatives with TS. The ratio of familial to sporadic cases was 1 to 2.4, which was in line with world data. Of the 41 patients, there were 18 children (43.9%) and 23 adult (56.1%) patients. By gender, there were 20 male (48.7%) and 21 female (51.3%) patients. Thirty-two patients (78%) had multisystem involvement. In TS, there was a significant variability in clinical manifestations, both in unrelated patients and within the same family.
Conclusion. The prevalence of TS in the Novosibirsk Region was 1:67947 of the population. The most common skin symptoms in TS were hypopigmented macules and angiofibromas of the face. With TS, skin lesions are present at birth or develop in early childhood, the disease progresses during life and can lead to disability and reduced life expectancy of the patient; so, the awareness of dermatologists is critical to ensure early diagnosis and initiation of therapy.

About the Autors

Corresponding author: Yulia V. Maksimova, Dr. Sci. (Med.), Professor, Head of the Department of Medical Genetics and Biology, Novosibirsk State Medical University, Novosibirsk, Russia,

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