Congenital dyskeratosis (syndrome of Zinsser-Engman-Cole) belongs to the group of rare genetic syndromes, which are manifested by skin and mucous membranes abnormalities, bone marrow insufficiency and a tendency to develop malignant diseases. This pathology is extremely rare, up to the present time there are no exact data, approximately the prevalence is 1: 1 000 000 per year, with predominantly male patients (in the ratio of 3: 1). In total, according to the literature, about 60 patients with this pathology are described. The article describes the clinical case of congenital dyskeratosis in a child aged 1 year 10 months, its main clinical manifestations, features of diagnosis and treatment.