РЕДКИЕ ТИПЫ СИНДРОМА ЭЛЕРСА–ДАНЛО В ПРАКТИКЕ ПЕДИАТРА

Abstract

Clinical observations of patients with arthrochalasia and classical-like types of Ehlers-Danlos syndrome (EDS) caused by mutations in the COL1A2 and TNXB genes, respectively, are presented in the article. These genes are involved in the organization of the correct structure and function of collagen. The presence of common links of pathogenesis, apparently, determines the formation of common clinical signs identified in patients (hypermobility syndrome, increased skin extensibility, impaired posture, deformity of the lower extremities, flat feet, mitral valve prolapse) and similar complaints (increased fatigue during exercise, pain in the legs). The peculiarity of the clinical picture in a female patient with arthrochalasia type of EDS were repeated dislocations/subluxations of large and small joints; and in a female patient with a classical-like type of EDS were repeated nosebleeds and the occurrence of paraorbital hematoma. In both observed cases it was possible to determine the type of disease only after a molecular genetic study and a joint analysis of phenotypic and genetic data. Establishing the type of EDS is important for determining the tactics of further medical observation of the patient and medical genetic counseling.