Multiple exostosis - causes and polymorphism

Abstract

Introduction. Multiple exostosis is a genetic bone disease characterized by the development of osteocondrograms present in the form of long-bone bosel These bone-to-bone bumps have different shapes and are formed in restricted populations whose populations suffer from mutation in comosome 8 manifested by the lack or insufficiency of the exostosin-1 protein. Aim of the study. The purpose of this study was to present the. Clinical and genetic study of multiple exostosis, moreover the correlation between the genetic and clinical aspects of the disease. Material and methods. The study includes the experience of surgical treatment of 11 patients, clinically confirmed, radiologically, morphologically confirmed in the conditions of the orthopedic and traumatology clinic of "N. Testemitanu ". Results. The difference in localization of the pathological outbreak, on the right or left side, is almost equal. The solitary formations in 73.03% were located on the humerus, tibia and phyllus and 26.97% in the other bones of the skeleton: the humerus - 1, the radius - 2 ulna - 1, the femur - 3, the tibia - - 2, calcaneus - 1. Pathological focal areas of the clavicle, scapula, humerus, radius, ulna, femur, tibia, fibula, cuneiform bone, calcaneum were removed in patients with multiple pathology as indicated. The particularities of this disease usually allow sparing surgery - marginal resection in the affected bone region (93%), without the need for osteoplasty, and only 7% performed other types of resection. In all cases, the resection piece was studied patomorphologically in a specialized laboratory. Conclusions. Given that the prevalence of the disease in Moldova according to Ministry of is estimated at 1:35 000 individuals it has been difficult for me to analyze the patients because the vast majority of them are operated and in short type are dispensed. At the same time, we noticed that a patient had relapses, so the number of surgeries a patient needs during his life varies from one person to another. Treatment of the disease is by removing very bulky exostoses, which causes pain, joint limitations, nerve or vascular compressions or massive bone deformities. A careful follow-up of the affected person allows to determine the optimal moment of intervention and prevent complications such as joint dislocations. With some issues related to unsightly appearance or reduced functionality of some skeletal segments, this disease is compatible with normal life.