Mapping the Clinical and Surgical Management Landscape of Cherubism

Abstract

Background:

Cherubism is a rare pediatric jaw disorder characterized by bilateral mandibular and/or maxillary expansion and variable progression, often stabilizing after puberty. Despite decades of case reports and genetic insights, optimal treatment pathways remain unclear, with debate persisting over the need for early surgical intervention versus observation given potential spontaneous regression. Understanding how research in cherubism has evolved can clarify priorities and identify gaps that need to be addressed to improve patient care.

Methods:

A comprehensive search of the Web of Science Core Collection was conducted to identify the 50 most-cited publications related to cherubism from 1900 to June 2025. Inclusion criteria focused on peer-reviewed articles addressing clinical features, pathophysiology, genetic underpinnings, and management strategies in cherubism. Data extracted included title, authorship, citation count, year of publication, country of origin, institution, journal, research domain, and author keywords. Citation network and density visualizations were created using VOSviewer, mapping co-authorship and thematic clusters within the literature to identify influential publications and evolving research trends.

Results:

The initial search yielded 562 publications, refined to 206 relevant articles within surgical and dental domains, with the top 50 most-cited articles analyzed in detail. The most-cited publication, by de Lange, focused on giant-cell lesions complicating fibro-osseous jaw conditions, with 189 citations. Overall, the top 50 articles accrued 1977 citations. Most publications originated from the United States, followed by Brazil, England, and the Netherlands. Dentistry Oral Surgery Medicine led as the primary research area, followed by Surgery, reflecting the anatomical and procedural focus in cherubism research. Annual publication trends revealed a peak between 2005 and 2008, followed by a decline over the past decade, with few recent contributions. Analysis of author keywords demonstrated a thematic evolution from conceptual overlaps with giant cell lesions and fibrous dysplasia (2000-2005), to genetic exploration and treatment discussions (2005-2010), a shift toward conservative therapy (2010-2015), and a narrowing focus with limited new keywords in recent years (2015-2025).

Conclusions:

This analysis demonstrates that while cherubism literature has established strong foundational knowledge regarding diagnosis and genetic underpinnings, significant gaps persist in guiding clinical decision-making, particularly in the comparative effectiveness of surgical versus conservative management. The decline in recent publication activity and reduced emergence of new research themes highlight an urgent need for renewed focus in the field. Moving forward, collaborative multicenter studies with long-term follow-up are needed to evaluate treatment outcomes, functional status, and quality of life, providing evidence to support standardized care pathways for patients with cherubism.