METACONDROMATOSIS - HAY QUE CONOCERLA PARA PODER IDENTIFICARLA
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Rev. Méd. La Paz
Abstract
La metacondromatosis es una enfermedad genética autosómica dominante rara, asociada a una mutación del gen PTPN11. Se caracteriza por la presencia simultánea de lesiones tipo osteocondroma y encondroma, localizadas en sitios distintos a los descritos en la exostosis hereditaria múltiple y en la encondromatosis múltiple, que constituyen los principales diagnósticos diferenciales de esta entidad. Se reportó el caso clínico de una paciente de 14 años, evaluada en el Centro Médico de Diagnóstico por Imágenes (CEMED), quien presentaba radiográficamente múltiples osteocondromas en huesos largos y encondromas en manos y pies. Además, se evidenció acortamiento y deformidad ósea, hallazgos que no son frecuentes en la metacondromatosis. El diagnóstico se estableció con base en la evolución clínica, el examen físico, los hallazgos radiológicos, el estudio histopatológico y la exclusión de diagnósticos diferenciales, sustentado en una revisión bibliográfica actualizada sobre esta rara entidad.
Metachondromatosis is a rare autosomal dominant genetic disorder associated with a mutation in the PTPN11 gene. It is characterized by the simultaneous presence of osteochondroma and enchondroma lesions, located in sites different from those described in hereditary multiple exostosis and multiple enchondromatosis, which are the main differential diagnoses for this condition. We report the case of a 14-year-old female patient, evaluated at the CEMED Diagnostic Imaging Center, who presented radiographically with multiple osteochondromas in long bones and enchondromas in the hands and feet. In addition, bone shortening and deformity were evident, findings that are not common in metachondromatosis. The diagnosis was established based on the clinical course, physical examination, radiological findings, histopathological study, and exclusion of differential diagnoses, supported by an updated literature review on this rare condition.
Metachondromatosis is a rare autosomal dominant genetic disorder associated with a mutation in the PTPN11 gene. It is characterized by the simultaneous presence of osteochondroma and enchondroma lesions, located in sites different from those described in hereditary multiple exostosis and multiple enchondromatosis, which are the main differential diagnoses for this condition. We report the case of a 14-year-old female patient, evaluated at the CEMED Diagnostic Imaging Center, who presented radiographically with multiple osteochondromas in long bones and enchondromas in the hands and feet. In addition, bone shortening and deformity were evident, findings that are not common in metachondromatosis. The diagnosis was established based on the clinical course, physical examination, radiological findings, histopathological study, and exclusion of differential diagnoses, supported by an updated literature review on this rare condition.
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Vol. 31, No. 2