Bibliometric Analysis of Global Scientific Production on Oral and Maxillofacial Manifestations in Gaucher Disease

Abstract

Gaucher disease is a rare lysosomal storage disorder whose implications for the stomatognathic system remain poorly explored. This study presents a bibliometric analysis aimed at characterizing the scientific production related to GD, bone involvement, and diagnosis, with particular emphasis on the representation of oral and maxillofacial manifestations. A systematic search was conducted in the Scopus database, retrieving peer-reviewed publications on Gaucher disease and oral/maxillofacial health published between 1970 and 2026. Bibliometric analysis and knowledge mapping were performed using VOSviewer. Keyword co-occurrence networks and temporal visualizations were generated using full counting and association strength normalization to identify thematic clusters, main collaboration structures, and research gaps in the literature. Publications showed a centralized geographic distribution led by the US, alongside the UK, Israel, and European nations. Bibliometric mapping of 42 high-frequency keywords revealed three main thematic axes: therapeutic/molecular foundations (dominated by enzyme replacement therapy), systemic skeletal manifestations (focused on MRI, osteoporosis, and bone marrow infiltration), and demographic population traits. Temporal overlay analysis indicated a shift from early prenatal diagnosis to skeletal complications, yet oral, dental, and craniofacial manifestations remained virtually absent. This persistent thematic gap highlights a disconnect between clinical literature-which documents jaw involvement, bone resorption, and surgical risks-and mainstream research prioritization. The lack of interdisciplinary integration excludes dental professionals from early screening and comprehensive management. Future studies must incorporate multi-database searches and advanced 3D morphometrics to optimize multidisciplinary patient care.

Keywords:
Gaucher disease; Bibliometric analysis; Stomatognathic system; Oral manifestations; Dentistry

Introduction

Gaucher disease (GD) (MIM #230800, #230900, #231000; ICD-10: E75.2; ICD-11: 5C56.0Y; ORPHA: 355) is an inherited autosomal recessive genetic disorder caused by pathogenic variants in the GBA gene, which encodes the enzyme β-glucocerebrosidase (EC 3.2.1.45). Deficiency or dysfunction of this enzyme impairs the normal degradation of glucocerebroside, a lipid that progressively accumulates within the lysosomes of macrophages and other phagocytic cells of the reticuloendothelial system [¹]. This pathological accumulation primarily affects the liver, spleen, and bone marrow and, in some cases, the central nervous system, leading to a broad spectrum of clinical manifestations that vary in severity and age of onset [²].

Three types of GD are recognized: type 1, or non-neuropathic GD (GD1); type 2, or acute neuropathic GD (GD2); and type 3, or chronic neuropathic GD (GD3), which follows a slower disease course. Although GD is considered a rare disease, its impact on quality of life and healthcare systems is substantial, particularly due to its chronic and potentially disabling course and the high costs associated with its treatment [³-⁴].

Alterations in the GBA gene, located on chromosome 1q21, impair the synthesis or function of β-glucocerebrosidase, leading to the progressive accumulation of glucocerebrosides within macrophages. These cells transform into so-called Gaucher cells, which are characterized by a fibrillar cytoplasm and a distended morphology. Their infiltration into various organs triggers a chronic inflammatory response and structural tissue alterations [⁵]. Lysosomal substrate accumulation represents the central pathophysiological hallmark of the disease [⁶].

The signs and symptoms of GD can be classified into four categories: visceral manifestations, hematological abnormalities, skeletal complications, and metabolic disorders. Visceral manifestations include hepatomegaly and splenomegaly. Hematological abnormalities include thrombocytopenia, anemia, and leukopenia. These findings arise because glucocerebroside accumulation in the bone marrow leads to reduced platelet production, while splenic involvement results in excessive degradation of red and white blood cells, thereby increasing the risk of hemorrhage and infections. Skeletal complications include painful crises, cellular necrosis, reduced bone mineral density, pathological fractures, and even deformities. These complications occur as glucocerebroside-laden macrophages accumulate in the bone marrow, restricting blood flow and leading to impaired nutrient and oxygen delivery to bone tissue [⁷].

Hematopoiesis and bone remodeling may be disrupted when Gaucher cells replace normal adipocytes within the bone marrow. Bone marrow mesenchymal stem cells, which are responsible for generating osteoblasts, osteocytes, bone lining cells, and marrow adipocytes, exhibit abnormal patterns of cytokine and prostaglandin expression. These alterations not only promote a reduction in bone mineral density by increasing the number and activity of osteoclasts but also stimulate the proliferation and activity of plasma cells, which may give rise to both polyclonal and monoclonal gammopathies [⁸]. Additionally, GD is associated with an increased overall risk of cancer, particularly hematological malignancies originating in the bone marrow.

Patients with GD also present nutritional disturbances and abnormalities in glucose metabolism, frequently accompanied by body weight alterations. Early identification and continuous monitoring of these metabolic disorders, especially those related to nutritional status, insulin resistance, and lipid abnormalities-are essential to provide optimal medical care [⁹].

Although most studies have focused on systemic manifestations and therapeutic advances-such as enzyme replacement therapy (ERT) or gene therapy, the implications of GD for the stomatognathic system have received limited attention. Bone alterations may occur in the maxilla or mandible, including reduced bone trabeculation, involvement of the cortical bone of the mandibular canal, and well-defined lesions that are often incidentally detected on routine panoramic radiographs [¹⁰]. Additional oral manifestations include delayed tooth eruption, tooth mobility, bone pain, and an increased risk of bleeding during invasive dental procedures, which is associated with thrombocytopenia [¹¹-¹³].

GD presents with diverse manifestations that substantially affect patients’ well-being; however, information regarding its implications for the oral cavity and their appropriate management remains limited, despite their importance in optimizing quality of life and therapeutic outcomes. To address this gap, the present bibliometric analysis was conducted through an exhaustive review of scientific literature to comprehensively examine current knowledge on GD and its relationship with the oral and maxillofacial field. This study aims to identify innovative approaches, thematic trends, areas of high research concentration, and gaps in the literature that may guide future research directions, to assess the current research landscape, provide an integrated overview of this medical condition, and improve its diagnostic and therapeutic management within dental practice [¹,¹⁴].

Materials and Methods

The bibliometric study focused on the framework of analysis of publications related to Gaucher disease and that addressed any topic related to oral and maxillofacial health, within the indexing of the repository of scientific literature during the period of 1970-2026.

The search strategy was applied to the title, abstract, and keyword fields. Furthermore, to ensure logical consistency and avoid ambiguities in Boolean operations, the query was structured as follows: ( TITLE-ABS-KEY ( "Gaucher disease" ) AND TITLE-ABS-KEY ( oral AND bone ) OR TITLE-ABS-KEY ( facial AND bone ) OR TITLE-ABS-KEY ( jaw ) OR TITLE-ABS-KEY ( diagnosis ) OR TITLE-ABS-KEY ( oral AND health ) OR TITLE-ABS-KEY ( oral AND manifestation ) ) AND PUBYEAR > 1969 AND PUBYEAR < 2027 AND ( LIMIT-TO ( DOCTYPE , "ar" ) OR LIMIT-TO ( DOCTYPE , "re" ) OR LIMIT-TO ( DOCTYPE , "ch" ) ). Information was searched in the PubMed, Scopus, and Web of Science repositories. Articles from peer-reviewed journals were included: original articles, review articles, and book chapters. In this study, the Scopus database was used because it has the broadest coverage of peer-reviewed literature and is best suited for scientific mapping analysis, to retrieve the most relevant documents related to Gaucher disease and oral and maxillofacial health. No restrictions were applied regarding language or publication stage. The search period covered publications from 1970 to 2026 (July 15^th). Data collection included records obtained from a systematic search of documents matching the search terms, and thesaurus synonyms were adjusted using a .txt file. Ethical approval was not required, as no human subjects or sensitive data were involved (Figure 1).

Figure 1.
Methodological flowchart of the bibliometric search strategy and network analysis workflow.

Data Analysis

Bibliographic records retrieved from Scopus were exported in .csv format and initially processed in Microsoft Excel for organization and data cleaning. Subsequently, bibliometric analysis and network visualization were performed using VOSviewer version 1.6.20., using full counting method. A minimum 15 co-occurrence threshold was applied to keywords to improve the interpretation of the network structure. Networks maps were constructed using the Association Strength as a normalization method to identify the main collaboration structures and thematic clusters in the field. The full counting method was applied, and two co-occurrence networks of the most frequently used terms were generated. These networks are graphical representations that illustrate the frequency with which specific terms appear together in the analyzed documents, enabling the identification of thematic associations and conceptual structures within the field of study:

• Authors’ keyword co-occurrence network from titles and abstracts

• Timeline network of terms extracted from titles and abstracts

Bibliometric Indicators

The evaluated indicators included:

• Term co-occurrence analysis.

• Publication volume and temporal trends.

• Identification of knowledge gaps related to the oral and maxillofacial system.

• Countries with the highest publication output.

Results

Geographic Distribution of Publications

The analysis of publication output by country revealed a highly centralized geographic distribution of research on Gaucher disease (Figure 2). The United States emerged as the leading contributor, generating most of the scientific literature with over 700 publications.

Figure 2.
Global scientific production output on Gaucher disease by top contributing countries.

A secondary group of high-output nations was led by the United Kingdom, Israel, Italy, France, and Germany, each contributing between 150 and 200 documents. Spain and India followed with over 100 publications each, while other regions in Asia (Japan, China), Latin America (Brazil), and Oceania (Australia) displayed moderate participation. Overall, the Pareto distribution line demonstrates that a small cluster of developed nations accounts for the majority of global scientific productivity in this field, whereas contributions from developing regions remain comparatively limited.

Bibliometric Mapping and Keyword Co-occurrence Analysis

A total of 2267 documents related to GD, bone involvement, and diagnosis were indexed in the Scopus database and exported to VOSviewer^® software for analysis. Out of 3,118 identified keywords, 42 met the minimum threshold of 15 simultaneous occurrences, following the removal of synonymous terms using a custom thesaurus file. Based on link strength, these 42 nodes formed thematic clusters reflecting the conceptual structure of the field.

The maps were generated to illustrate the concentration and recurrence of terms associated with GD in the currently published literature. The node of each map reveals that the most extensively investigated core concepts are concentrated around broad terms such as “Gaucher disease” with limited representation of more specific oral or maxillofacial aspects. This lack of thematic specialization suggests that, despite the well-established recognition of systemic skeletal involvement, craniofacial and dental manifestations have not received proportional attention in scientific literature.

Structural Analysis of Thematic Clusters

Furthermore, the co-occurrence network analyses shown in Figures 3 and 4 identified three major thematic axes that structure the current body of knowledge on Gaucher disease.

Figure 3.
Co-occurrence network of terms related to Gaucher disease in the Scopus database (1970-2026).

Figure 4.
Timeline: terms related to Gaucher disease in the Scopus database (1970-2026) and their evolution over time (Overlay Visualization, OV).

In Figure 3, the first cluster, represented in orange, groups concepts related to the therapeutic and molecular foundations of Gaucher disease. Within this cluster, replacement therapy emerges as the central node, accompanied by terms associated with enzymatic activity and genetic mechanisms. This thematic group exhibits its highest publication density between 2015 and 2018, coinciding with the development and consolidation of enzyme replacement therapies.

The second thematic axis, visualized in darkblue and purple, focuses on the diagnostic aspects and skeletal manifestations of the disease. In this group, GD1 emerges as the most studied variant, while imaging techniques such as magnetic resonance imaging (MRI) are positioned as fundamental tools for evaluating bone involvement. Concepts such as osteoporosis, osteolysis, and bone marrow infiltration appear recurrently, highlighting the skeletal impact of the disease. Unlike the previous group, these publications show a greater concentration in years (2012-2016), suggesting a growing interest in long-term bone complications. Despite this, there are no terms related to the oral cavity or the stomatognathic system, reinforcing the historical and current lack of research focused on oral manifestations of GD.

The third group, represented in red and green, encompasses the demographic aspects of the disease, with terms such as age, sex, and different life stages. This cluster shows a more homogeneous temporal distribution, where interest in variations in clinical manifestations according to population characteristics can be observed.

An important finding of this analysis was the near-total absence of specific terms related to oral or craniofacial manifestations within the co-occurrence network. The term “bone” appeared frequently and was strongly linked to diagnostic concepts, no terms such as “jaw“ or “oral manifestations,” or “dental pathology” were identified among the main nodes. This observation is particularly noteworthy given that the skeletal system is one of the most affected systems in Gaucher disease and that the jaws constitute an integral component of the skeletal framework.

Temporal Evolution and Trend Analysis

The temporal overlay visualization (Figure 4) revealed an evolution in research focus over time. While earlier publications were predominantly centered on terms such as prenatal diagnosis and newborn disorder, more recent studies have increasingly emphasized diagnostic aspects and bone pathology. However, this shift in research emphasis has not incorporated a specific focus on oral or craniofacial manifestations, highlighting a significant opportunity for future research in this area.

Accordingly, the following publication periods can be identified:

Initial publication period (purple/blue):

• Gaucher disease, diagnosis, pathology, bone marrow, differential diagnosis, human, adult, male, female.

• These are basic or foundational concepts in the study of Gaucher disease, established in the literature for a longer period.

2. Intermediate Terms (Green):

• Glucocerebrosidase, splenomegaly, hepatomegaly, glucosylceramide, thrombocytopenia, gene mutation, enzyme activity.

• These represent molecular concepts and clinical manifestations that began to appear more frequently in publications from 2008-2010 onward.

3. Recent Publication Period (Yellow):

• Enzyme replacement, enzyme replacement therapy, imiglucerase, lysosomal storage disease.

Discussion

The results obtained indicate that scientific production on GD, particularly GD1, has been predominantly oriented toward the study of genetic aspects, therapeutic approaches, and bone diagnostic features, whereas implications for the stomatognathic system are poorly represented in the indexed scientific literature.

Geographically, global scientific output is dominated by a small cluster of high-income nations led by the United States, alongside key European countries and Israel. This concentration aligns with historical patterns of funding and specialized research centers for rare lysosomal storage disorders. However, this geographic centralism may also contribute to a publication bias, as research priorities in these major centers remain focused on high-impact molecular therapies rather than integrative, specialty-specific clinical fields such as dentistry.

This pattern is consistent with previous bibliometric analyses, which have shown that research tends to focus on well-recognized systemic manifestations, while conditions with lower clinical visibility or interdisciplinary relevance remain underexplored [¹⁵-¹⁶].

When these manifestations are neither adequately documented nor widely recognized, dental practitioners may overlook crucial clinical signs, which inevitably affect patients’ quality of life by limiting access to comprehensive and integrated care.

This research gap may, in turn, reflect a clinical reality: dental professionals are, in most cases, not integrated into interdisciplinary teams involved in disease management. Previous studies have indicated that limited awareness of rare diseases among oral health professionals restricts early detection and comprehensive management of these patients [¹⁷-¹⁸]. Their exclusion narrows the overall clinical perspective and creates a vicious cycle in which the lack of visibility of the problem discourages research, while the lack of research perpetuates its invisibility within the broader medical context.

The formation of thematic clusters and the co-occurrence network reveals that research lines have primarily focused on: (i) ERT and genetic variants; (ii) imaging-based diagnosis and differential diagnosis of bone involvement; and (iii) characterization of the disease in specific populations stratified by age and sex. These findings are consistent with trends reported in other bibliometric studies on lysosomal storage disorders, in which systemic manifestations receive greater attention than oral or maxillofacial complications [¹⁵,¹⁹].

A relevant finding that warrants further discussion is the near-total absence of specific terms associated with oral or craniofacial manifestations in the co-occurrence network (Figure 1). Although the term “bone” appeared frequently and was strongly linked to diagnostic aspects, key concepts such as “maxilla,” “mandible,” “oral manifestations,” or “dental pathology” were not identified among the main nodes. This situation is striking, given that bone is one of the most affected systems in the disease and that the jaws constitute an integral component of the skeletal system. This discrepancy may be attributed to a lack of interdisciplinary focus in the primary literature, as well as methodological factors related to database coverage, keyword indexing conventions, and visual thresholding criteria applied during network construction.

The analysis of the temporal evolution of terms suggests that, despite the increasing scientific output between 2004 and 2014, the research focus has remained centered on molecular and therapeutic components, without a transition toward integrative approaches that consider craniofacial structures. Although some documents retrieved through the search strategy included terms such as “craniofacial,” detailed analysis revealed that these were not specifically linked to oral manifestations or to studies addressing dental implications in patients with GD, highlighting a persistent gap in the literature. This omission also suggests limited specificity in the indexing of terms related to the stomatognathic system within scientific databases and supports the relevance of conducting a bibliometric study focused on the oral manifestations of GD [¹⁵].

This specific lack of research on oral manifestations of GD has clinically relevant implications that extend into the academic domain. Oral findings may contribute to the early detection of GD, particularly in the absence of overt clinical signs and symptoms, suggesting that timely diagnosis of the disease may be delayed. Oral manifestations may be asymptomatic or present as spontaneous bleeding, post-surgical infections, or maxillary and mandibular bone involvement, which may go unnoticed yet negatively affect patients’ quality of life [¹⁶].

This bibliometric silence contrasts sharply with the clinical literature, which documents significant stomatognathic involvement in GD. From a general dentistry and oral radiology perspective, GD frequently manifests in the jaws-particularly the mandible-due to the accumulation of Gaucher cells in the bone marrow. Key panoramic radiographic features include generalized diffuse osteoporosis, enlargement of marrow spaces, loss of trabecular architecture ("soap-bubble" appearance), and cortical thinning [¹⁴]. Notably, alterations in the mandibular canal, such as widening or displacement, as well as delayed dental eruption and root resorption, are well-recognized indicators of osseous expansion. Furthermore, patients face heightened surgical risks, including severe post-extraction bleeding due to thrombocytopenia and coagulopathy, alongside an increased susceptibility to bone necrosis and post-surgical infections [¹⁵-¹⁶]. Connecting our bibliometric findings with these established clinical entities emphasizes that the lack of thematic representation in major databases is not due to a absence of clinical pathology, but rather to a breakdown in multidisciplinary reporting and recognition within general dental practice.

The limited inclusion of dental professionals in interdisciplinary care teams for GD represents a multifactorial contributor to this problem. Complex cases of GD1 require multidisciplinary specialist teams to manage and coordinate patient care; however, available evidence suggests that dentists are rarely included in such teams. This exclusion reinforces the lack of research, as many rare diseases exhibit dental and craniofacial alterations from early stages, positioning dentists and oral and maxillofacial surgeons in a strategic role for early identification [¹⁷].

This situation is particularly problematic given that the multidisciplinary approach to healthcare integrates professionals from different fields to deliver patient-centered care with shared objectives. When dental professionals are not considered integral members of these teams, opportunities for early detection of oral manifestations that could contribute to both diagnosis and comprehensive disease management are lost, thereby perpetuating the research and clinical gaps identified in this bibliometric analysis [¹⁸-¹⁹]. In this regard, evidence from broader complex health conditions underscores the pivotal role of early screening, interdisciplinary monitoring, and community-based detection-frameworks in which dental professionals act as key frontline contributors to earlier clinical recognition and integrated patient care [²⁰].

In this context, GD represents a valuable yet largely unexplored opportunity for interdisciplinary research, given its complex and multisystemic nature, as well as the skeletal involvement that may extend to maxillofacial structures. Bibliometric analyses reveal a clear thematic fragmentation centered on biomedical aspects, while clinically relevant domains for dentistry-such as masticatory function, dental alterations, and effects on craniofacial development-remain underrepresented [²¹]. This underscores the need to promote collaborative research efforts aimed at achieving a more comprehensive understanding of the potential diagnostic, therapeutic, and functional implications of GD on the stomatognathic system.

Additionally, clinical and imaging studies focused on maxillofacial and dental alterations in these patients can be proposed, highlighting the importance of integrating methodologies such as three-dimensional morphometric analyses, digital dentistry, and emerging technologies. Three-dimensional geometric morphometric analyses have proven to be highly influential tools for the precise characterization of craniofacial structures, enabling the detection of anatomical variations and subtle alterations that may not be evident using conventional diagnostic methods [²¹-²²].

A priority research line should involve the development of clinical and imaging studies specifically aimed at characterizing maxillofacial and dental alterations in this patient population. In this regard, it is essential to emphasize the importance of integrating state-of-the-art methodologies that enable detailed quantitative analyses. The application of three-dimensional morphometric analyses, digital dentistry (including technologies such as intraoral scanners, 3D printing, and digital smile design), artificial intelligence-based image analysis, and related innovations would not only enhance data quality but could also establish objective diagnostic parameters, thereby facilitating early detection and personalized management of orofacial complications [²²-²⁴].

Limitations

Although Scopus was selected for its comprehensive coverage and alignment with our research goals, relying on a single database may exclude specialized dental journals indexed in databases such as PubMed or Web of Science. Additionally, variations in keyword indexing and standardized terms could underrepresent rare stomatognathic manifestations. Methodologically, threshold filtering in the network analysis highlights central research trends but inherently omits low-frequency nodes representing niche oral studies. Consequently, multi-database qualitative reviews are recommended to complement these findings.

Conclusions

The bibliometric analysis of the analyzed Scopus demonstrates that scientific production on GD has primarily focused on its pathophysiology, general diagnosis, and systemic treatment, with particular emphasis on ERT and broad skeletal alterations. Based on these data, a persistent thematic gap is evidenced regarding the impact of GD on the stomatognathic system. Co-occurrence and term density maps reveal a low representation of specific oral and maxillofacial manifestations, indicating that these aspects have not been the subject of substantial investigation within this dataset.

While these findings reflect the current scientific landscape within the studied corpus, this scope of inference should be confirmed through expanded searches across additional databases (e.g., PubMed and Web of Science).

Beyond the dataset's scope, the broader clinical implications suggest that this lack of specific literature represents a limitation in available knowledge for early oral diagnosis, tailored dental treatment planning, and the prevention of potential stomatognathic complications in affected patients. Consequently, these findings highlight the urgent need to foster interdisciplinary medical-dental research to deepen the understanding of jaw structural changes, strengthen the generation of clinical evidence, and ultimately optimize comprehensive patient care and quality of life.

Acknowledgments

To the Universidad del Valle for the support of all formative research processes and to the entire work team. Special thanks to Professor Howar Diego Ramirez-Malule for his technical and methodological support in the development of this work

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Data Availability

No datasets were generated or analysed during the current study.

Corresponding Author:

Daniela Arturo-Terranova, e-mail: [e-mail]

Associate Editor:

Guilherme Baldo

Declaration of Conflicting Interests

The authors declare no conflict of interest.

Publication Dates

• Publication in this collection
  05 Oct 2026
• Date of issue
  2026

History

• Received
  28 Jan 2026
• Accepted
  02 Sept 2026