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.
