Analysis of congenital skin defects in newborns on the territory of the Novosibirsk region for 10 years

Background. Congenital malformations are the leading causes of disability and death among the child population. Annually, there is a tendency for the growth of congenital malformations among newborns in the territory of the Novosibirsk region. The structure of these defects also includes congenital skin defects. Objective. Evaluation of the frequency of congenital skin defects in newborns in the Novosibirsk region for 10 years. Methods. Retrospective analysis of medical records for the period from 2010 to 2020: 5918 reports for children with congenital malformations (CM)/multiple congenital malformations born on the territory of the Novosibirsk region; 3206 acts and protocols of medical and social examinations of children from 0 to 3 years old at the Main Office of Medical and Social Assessment of the Novosibirsk region of the Ministry of Labor of Russia, who received the category of «disabled child»; 938 outpatient records of probands of the clinical department of the medico-genetic department of City Clinical Hospital № 1, who were consulted by a geneticist under one year of age. Results. From 2010 to 2020, 32 cases of congenital malformations of the skin and /or its appendages were registered in newborns on the territory of the Novosibirsk region, which was accounted for 0.54% of all congenital malformations, and 59.4% of them were assigned the category of “disabled child", indicating a high percentage of disability in children born with dermatological diseases registered as congenital malformations of the skin and/or its appendages. During visit a doctor, genodermatoses with various modes of inheritance were diagnosed in 26 children: in 19 patients - ichthyosiform erythroderma, in 2 - X-linked ichthyosis, in 4 - epidermolysis bullosa, in1 child - epidermolysis bullosa, dystrophic form. Conclusion. In order to carry out measures for the prevention and treatment of hereditary and congenital diseases, to reduce the associated child morbidity, disability and mortality, all families who have given birth to a child with congenital malformations of the skin and/ or its appendages need a consultation by a geneticist.

congenital skin malformation, genodermatosis, polymorphism of clinical manifestations, ichthyosis