Cherubism: An African-Focused Review

TL;DR

This review highlights the limited understanding of cherubism in Africa, emphasizing the need for better data collection and genetic testing to improve patient care and global knowledge.

Contribution

The paper provides a focused review of cherubism in African populations, identifying gaps in diagnosis, genetic testing, and long-term follow-up.

Findings

Cherubism in Africa is underreported and lacks accurate epidemiological data.

Delayed specialist care leads to significant complications in affected individuals.

Molecular genetic testing is rarely used, with most diagnoses relying on clinical and radiological features.

Abstract

What are the main findings?
The epidemiology of cherubism in Africa cannot be accurately determined from the currently available published data.Although symptom onset typically occurs in early childhood, presentation for specialist care is often delayed until adolescence, with significant complications reported.

The epidemiology of cherubism in Africa cannot be accurately determined from the currently available published data.

Although symptom onset typically occurs in early childhood, presentation for specialist care is often delayed until adolescence, with significant complications reported.

What are the implications of the main findings?
There is a need for registries and publications on the long term follow up of patients with cherubism to better understand if the natural history of cherubism and whether the phenotype differs from what has been reported in other regions.Enhancing genomics literacy, expanding molecular diagnostics and improving multidisciplinary craniofacial care, is needed to improve patient outcomes and ensure African data inform the global understanding of cherubism.

There is a need for registries and publications on the long term follow up of patients with cherubism to better understand if the natural history of cherubism and whether the phenotype differs from what has been reported in other regions.

Enhancing genomics literacy, expanding molecular diagnostics and improving multidisciplinary craniofacial care, is needed to improve patient outcomes and ensure African data inform the global understanding of cherubism.

Cherubism is a rare fibro-osseous disorder of the jaws that typically presents in early childhood and is recognised as genetically heterogeneous. While the condition is well described in non-African populations, African data and molecular confirmation remain limited. Background/Objectives: This structured narrative review aimed to synthesize published African cases of cherubism by describing patterns of presentation, diagnosis, management, and genetic investigation. Methods: A structured narrative literature review was conducted using PubMed, Scopus, Google Scholar, and African Journals Online. Peer-reviewed case reports and case series describing cherubism in African patients were included. Data extraction followed predefined criteria, capturing demographic features, age at onset and presentation, clinical, radiological and histological findings, management strategies, and the use of molecular genetic testing. Findings were synthesised descriptively. Results: Fourteen studies reporting 20 individual cases from eight African countries were identified, with the majority originating from North Africa. Although symptom onset most commonly occurred in early childhood, the median age at presentation for management was 13.75 years, suggesting delayed access to care. Molecular genetic testing was reported in only two cases, while most diagnoses relied on clinical, radiological, and histopathological features. Surgical intervention was commonly described, with fewer cases managed conservatively. Conclusions: Within the limitations of a structured narrative review based predominantly on published case reports and case series, and constrained by the scarcity of molecularly confirmed cases, the available African literature on cherubism remains limited in scope, geographically skewed, and characterised by incomplete genetic reporting. Recurring features include delayed presentation, reliance on clinical diagnosis, and limited use of molecular testing. These observations reflect gaps in reporting and genetic characterisation rather than population-level patterns, underscoring the need for improved molecular diagnostics, multidisciplinary care, and African registries.

Figures