Orphanet Journal of Rare Diseases | Comparative Study of Dentomaxillofacial Abnormalities in Children with Rare Bone Diseases from Africa and Europe

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This study is the first systematic comparison of dentomaxillofacial abnormalities in children with rare bone diseases from East Africa and Southern Europe. It reveals that East African children exhibit more severe conditions in gingivitis, dental fluorosis, and malocclusion, and highlights a significant association between bone disease subtypes and facial abnormalities. The findings provide critical insights into understanding oral health disparities among patients in different geographic regions.

 

Literature Overview

The article, titled 'Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa', published in Orphanet Journal of Rare Diseases, summarizes data from 149 children with bone diseases from Arusha, Tanzania, and Barcelona, Spain. The study focuses on differences in the manifestations of two bone disease subtypes—Disorders of Cell Metabolism (DCM) and Disorders of Growth and Development (DGD)—and analyzes dental health indicators, tooth agenesis, dental fluorosis, and skeletal deformities. Using a cross-sectional study design, the article evaluates and compares clinical characteristics between the two regions, emphasizing the close relationship between dentomaxillofacial abnormalities and rare bone diseases.

Background Knowledge

In the European Union, a rare disease is defined as one affecting fewer than 1 in 2,000 people, with approximately 80% having a genetic basis. The European Reference Network on Rare Bone Diseases (ERN BOND) catalogs congenital hereditary bone disorders that affect bone, cartilage, and dentin. Dentin, bone, and craniofacial development share common cellular origins and signaling pathways during embryogenesis, such as Wnt, Shh, FGF, and BMPs, which play critical roles in different stages of tooth and bone formation. Dentomaxillofacial (DOMF) abnormalities are often associated with rare bone diseases but are frequently overlooked, leading to delayed treatment. This study explores the influence of geographic, genetic, and environmental factors on DOMF abnormalities by comparing patient cohorts from two regions with differing economic levels (Arusha vs. Barcelona). In developing countries, limited access to healthcare resources often prevents timely diagnosis and treatment. Therefore, the research team correlates DOMF abnormalities with bone disease subtypes to provide more precise diagnostic and intervention strategies for clinical use.

 

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Research Methods and Experiments

This cross-sectional study included 149 pediatric patients aged 6–18 years, with 60 recruited from Mount Meru Regional Referral Hospital (MMRRH) in Arusha, Tanzania, and 89 from Hospital Sant Joan de Déu (HSJD) in Barcelona, Spain. All patients underwent oral clinical examinations, including plaque index (PI), gingival index (GI), decayed-missing-filled teeth index (DMF-T), Thylstrup-Fejerskov index (TFI) for dental fluorosis, and assessments of tooth agenesis, malocclusion, and skeletal deformities. Skeletal malformations were categorized using ICD-9. Inter-group comparisons were conducted using Mann-Whitney U tests and chi-square tests to analyze clinical differences between DCM and DGD subtypes.

Key Findings and Perspectives

• Gingival health index was significantly better in the HSJD group than in the MMRRH group (p = 0.033)
• DMF-T (dental caries index) was lower in the HSJD group, though not statistically significant (p = 0.105)
• Tooth agenesis was more prevalent in the MMRRH group (36.7% vs 10.1%, p < 0.001)
• In MMRRH, DGD subtype showed higher prevalence of tooth agenesis compared to DCM (50% vs 25%, p = 0.045)
• Dental fluorosis was significantly more common in the MMRRH group (26.6% vs 1.1%, p < 0.001), particularly in the DCM subtype
• MMRRH group had higher prevalence of Class III malocclusion and negative overjet (p < 0.001)
• HSJD group showed more severe deep overbite and open bite in the DCM subtype (p = 0.027)
• Pathological fractures were more frequent in the DGD subtype (p < 0.001), and significantly present in both regions

Research Implications and Future Directions

The findings highlight the strong link between rare bone diseases and dentomaxillofacial abnormalities. In developing countries, lack of genetic diagnosis and dental care leads to higher health risks for affected children. Future studies should focus on genetic screening and oral interventions to improve oral health and quality of life. Additionally, interdisciplinary collaboration should be enhanced to improve the recognition of DOMF abnormalities by pediatricians, orthopedic surgeons, and dentists, enabling early diagnosis and treatment.

 

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Conclusion

This study compares dentomaxillofacial abnormalities in children with bone diseases from East Africa and Southern Europe, revealing the impact of different etiologies (DCM and DGD) on oral health, tooth development, and skeletal deformities. East African children exhibited more severe conditions in gingival health, dental fluorosis, and tooth agenesis, significantly associated with the DGD subtype. This suggests that in resource-limited settings, oral health issues in children with bone diseases are often overlooked, necessitating strengthened interdisciplinary collaboration and early screening. The study also underscores the importance of DOMF abnormalities as clinical features of bone diseases, providing a foundation for future targeted interventions.

 

Lluís Brunet-Llobet, Elias Isaack Mashala, Anastasiya Lapitskaya, María Dolores Rocha-Eiroa, and Jaume Miranda-Rius. Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa. Orphanet Journal of Rare Diseases.