Type 1 kyphoscoliotic Ehlers–Danlos syndrome caused by mutations of the PLOD1 gene: analysis of own observations

Abstract

   Kyphoscoliotic type of Ehlers–Danlo syndrome occurs in the practice of doctors of different specialties. The main manifestations of the disease are congenital muscular hypotonia, progressive kyphoscoliosis, generalized joint hypermobility, dislocation/subluxation of the joints. In recent years, special attention has been paid to the fragility of blood vessels characteristic of patients, which usually has serious consequences.   Purpose: the study aims at clarifying the clinical characteristics of type 1 kyphoscoliotic Ehlers–Danlo syndrome based on the analysis of the clinical findings observed in 2 patients with severe vascular disorders. Data from clinical and molecular genetic examination of 2 children (girl and boy) 17 and 13 years old from unrelated families are presented.   The diagnosis of type 1 kyphoscoliotic Ehlers–Danlo syndrome was established in accordance with the diagnostic criteria according to the International Classification 2017. Children showed severe vascular disorders in the neonatal period, ruptures of medium-caliber arteries in adolescence. Genomic sequencing in both patients revealed a pathogenic nucleotide variant in the PLOD1 gene — duplication of the 11959421–11968422 chromosome 1 region in the homozygous state. The results of literature analysis and own observations of 2 patients with type 1 kyphoscoliotic Ehlers–Danlo syndrome indicate the severity and rather high incidence of vascular disorders, which should be considered when developing recommendations for the medical management of patients.