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Revista Archivo Médico de Camagüey

On-line version ISSN 1025-0255


RODRIGUEZ RODRIGUEZ, Eugenio Isidro et al. Hereditary multiple exostoses: report of a family. AMC [online]. 2015, vol.19, n.2, pp.154-159. ISSN 1025-0255.

Background: osteochondroma is the most common benign osseous tumor in pediatric age and hereditary multiple exostoses is one of its types with a pattern of dominant autosomal heredity and a symmetrical distribution in almost all the skeleton, although an asymmetrical distribution can appear in two of the three genotypes of the disease. Objective: to present the case of a family that suffers from hereditary multiple exostoses diagnosed in a multidisciplinary way from clinical, radiological, and histopathological aspects. Clinical case: the case of a family with muscular-skeletal malformations is presented. Short height predominated, as well as non-painful hard nodular lesions in arms, forearms, thighs, legs, ribs, and scapulas with deformities in proximal and distal areas in both arms and forearms and in the proximal and distal third of the legs. From the radiological point of view, lesions of different aspects (oval, lobate, elongated) and of well-defined appearance were observed in the diaphysis of the affected bones. All the patients underwent laboratory exams, the results of which were normal. The patients underwent surgical treatment with removal of the most prominent tumors and mainly those which presented a greater tendency to become malignant, like rib, scapula, pelvis and shoulder. Conclusions: hereditary multiple exostoses constitute an infrequent illness in our environment and surgical treatment is the best choice to improve the clinical manifestations.


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