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Published on: May 31, 2014
Cherubism: An African-Focused Review.
Salma Kabbashi1, Imaan A Roomaney1, Martin Douglas-Jones2
1Department of Craniofacial Biology, Pathology and Radiology, Faculty of Dentistry, University of the Western Cape, Cape Town 7505, South Africa.
Limited African data exists for cherubism, a rare jaw disorder. Studies show delayed presentation, reliance on clinical diagnosis, and infrequent genetic testing, highlighting a need for better diagnostics and registries.
Area of Science:
- Genetics
- Oral and Maxillofacial Surgery
- Pediatric Dentistry
Background:
- Cherubism is a rare, genetically heterogeneous fibro-osseous jaw disorder.
- Existing literature primarily focuses on non-African populations, with limited African data.
- Molecular confirmation in African cherubism cases is scarce.
Purpose of the Study:
- To review and synthesize published African cherubism cases.
- To describe presentation patterns, diagnostic approaches, and management strategies.
- To assess the extent of genetic investigation in African cherubism.
Main Methods:
- Structured narrative literature review of PubMed, Scopus, Google Scholar, and African Journals Online.
- Inclusion of peer-reviewed case reports and series on African cherubism patients.
- Data extraction on demographics, clinical/radiological/histological findings, management, and genetic testing.
Main Results:
- 14 studies reported 20 cases from 8 African countries, predominantly North Africa.
- Median age at presentation (13.75 years) suggests delayed healthcare access despite early childhood onset.
- Molecular genetic testing was reported in only 2 cases; diagnoses relied on clinical/radiological/histopathological features.
Conclusions:
- African cherubism literature is limited, geographically skewed, and lacks comprehensive genetic reporting.
- Delayed presentation, clinical diagnosis, and minimal molecular testing are recurring themes.
- Gaps in reporting and genetic characterization necessitate improved molecular diagnostics, multidisciplinary care, and African registries.
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