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Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)

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Tuberous sclerosis associated with congenital lymphedema

https://doi.org/10.21508/1027-4065-2023-68-6-99-104

Abstract

Tuberous sclerosis complex is an autosomal dominant hereditary disease characterized by the formation of multiple hamartomas in various organs and tissues. Although tuberous sclerosis is considered to be a rare condition, it is among the most common genetic diseases. According to the literature, 16 cases of tuberous sclerosis associated with congenital lymphedema have been revealed from 1984 in scientific publications. Only four of these cases were described in male patients. Such combinations have not been yet described in the Russian studies. The article discusses different aspects of a rare clinical case presented by the combination of tuberous sclerosis with congenital lymphedema in a male patient aged 1 year and 6 months.

About the Authors

R. G. Gamirova
Kazan (Volga Region) Federal University
Russian Federation

Kazan



E. N. Garifullina
Kazan (Volga Region) Federal University
Russian Federation

Kazan



A. K. Feiskhanov
Kazan (Volga Region) Federal University
Russian Federation

Kazan



E. A. Gorobets
Kazan (Volga Region) Federal University
Russian Federation

Kazan



D. D. Gaynetdinova
Kazan State Medical University
Russian Federation

Kazan



S. Ya. Volgina
Kazan State Medical University
Russian Federation

Kazan



M. Yu. Dorofeeva
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation


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Review

For citations:


Gamirova R.G., Garifullina E.N., Feiskhanov A.K., Gorobets E.A., Gaynetdinova D.D., Volgina S.Ya., Dorofeeva M.Yu. Tuberous sclerosis associated with congenital lymphedema. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(6):99-104. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-6-99-104

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ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)