BLOCH-SULZBERGER SYNDROME IN CHILDREN
Bloch - Sulzberger syndrome is a rare genetic pathology, but in 2019, 2 children with this disease were born in the Chuvash Republic, they were born in non-relative families. The article describes a clinical case of Bloch-Sulzberger syndrome in a newborn girl diagnosed at the stage of a perinatal hospital. The disease was detected immediately after the birth of the child, the diagnosis is suspected basing on the clinical picture, despite severe skin manifestations from the first hours of life and the general severe condition of the child associated with respiratory disorders and ischemic damage to the central nervous system. Further confirmation of the diagnosis was carried out with the involvement of dermatologists, geneticists and genetic testing to detect mutations in the IKBKG gene.