Hereditary multiple exostoses

Abstract

Introduction: hereditary multiple exostoses or hereditary osteochondromatosis is a rare disease with autosomal dominant transmission. It is characterized by abnormal growth, especially in the metaphysis of long bones, of benign osteochondromas that can cause shortening or bone deformities. It is usually diagnosed in the first decade of life.

Objective: to present a case with hereditary multiple exostoses, of infrequent report in the literature, as a finding identified by the Cuban collaborating doctors in the Republic of Ecuador.

Case presentation: male schoolchild of six years of age. He went to consultation, accompanied by his mother, for presenting "a lump in his right hand", with a progressive increase in size, painful and that prevents him from writing. In the physical examination, the deformity in the right upper extremity was confirmed, with an increase in the volume of the wrist with a stony consistency that displaced the radial artery. In the computerized axial tomography, an exostoses projection of the distal third of the radius was observed and the diagnosis was confirmed.

Discussion: forearm deformities induced by the disease can be successfully corrected surgically. The possible recurrence during the growth stage of the child makes it advisable to wait until the proximity of the skeletal maturity to carry out the corrective procedures of the forearm.

Conclusions: possible bone complications, associated neurological and vascular disorders and the risk of malignancy are characteristics to be taken into account by the medical community because of the importance of early diagnosis with the timely correction of bone deformities that it causes