Keywords
Genetic mutation
Progressive diaphyseal dysplasia
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Abstract
Objective: To evaluate the number of publications on Camurati-Engelmann Disease in the literature, identify how many of these studies are case reports, and compare the collected information. Methods: This scientometric analysis was conducted using the SciVerse Scopus database. Initially, only original articles and reviews were selected, and titles and abstracts were screened to exclude studies that did not directly address the disease or that dealt with similar conditions. Next, case reports were identified, and by applying a temporal filter (2014 to 2024), papers that did not provide the necessary content for assembling a comparative framework were discarded. Results: The initial analysis identified 448 studies. After applying the exclusion criteria, 270 studies directly related to Camurati-Engelmann Disease remained. The United States, Japan, and Belgium were the countries that published the most on the subject. Among the 270 articles, 176 were case reports, with the majority of symptoms manifesting during childhood. The most common variant found was p. (Arg218Cys). Conclusion: It is concluded that many case reports lack complete information, emphasizing the need for high-quality case reports and reviews and under scoring the importance of improving the quality of the presented information.
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