Tuberous sclerosis associated with congenital lymphedema

Author:

Gamirova R. G.1ORCID,Garifullina E. N.1ORCID,Feiskhanov A. K.1ORCID,Gorobets E. A.1ORCID,Gaynetdinova D. D.2ORCID,Volgina S. Ya.2ORCID,Dorofeeva M. Yu.3ORCID

Affiliation:

1. Kazan (Volga Region) Federal University

2. Kazan State Medical University

3. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University

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.

Publisher

The National Academy of Pediatric Science and Innovation

Subject

Pediatrics, Perinatology and Child Health

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