Palabras clave
Mutación genética
Displasia diafisaria progressiva
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Resumen
Objetivo: Evaluar la cantidad de publicaciones sobre la Enfermedad de Camurati-Engelmann em la literatura, identificar cuántos de estos estúdios son informes de casos y comparar la información recopilada. Métodos: Se trata de un análisis cientométrico utilizando la base de datos SciVerse Scopus. Inicialmente se seleccionaron únicamente artículos originales y revisiones, y se examinaron los títulos y resúmen es para excluir estudios que no abordaran diretamente la enfermedad o que trataran condiciones similares. Posteriormente, se identificaron los informes de casos y, aplicando un filtro temporal (2014 a 2024), se descartarona que llos trabajos que no ofrecían el contenido necesario para la construcción de un marco comparativo. Resultados: El análisis inicial identificó 448 estudios. Tras aplicar los criterios de exclusión, permanecieron 270 estudios directamente relacionados com la Enfermedad de Camurati-Engelmann. Estados Unidos, Japón y Bélgica fueron los países que más publicaron sobre el tema. De los 270 artículos, 176 eran informes de casos, con la mayoría de los sintomas manifestándose en la infancia. La variante más común encontrada fue p. (Arg218Cys). Conclusión: Se concluye que muchos informes carecen de información completa, lo que enfatiza la necesidad de contar con informes de casos y revisiones de calidad, subrayando la importancia de mejorar la información presentada.
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