Abstract
Cherubism is rarely described in the African paediatric population. Orphanet currently lists cherubism as a rare disease; its prevalence is unknown and difficult to determine because of the wide clinical spectrum. Approximately 300 cases have been reported in various ethnic groups worldwide. This report analyses a child referred to our hospital for bilateral jaw swelling, diagnosed with cherubism based on clinical and radiological findings, and confirmed on histology.
Highlights
Cherubism is currently listed in Orphanet as a rare disease of unknown prevalence due to its wide clinical spectrum, with approximately 300 cases reported in various ethnic groups worldwide.[1]
The radiographic hallmark of cherubism is bilateral, symmetrical, multiloculated radiolucent lesions in the mandible extending from the region of the molar teeth towards the midline,[5] resulting in a soap-bubble appearance of the jaw.[3]
Maxillary involvement is less frequent, characterised by a soft tissue density in the maxillary antrum resulting in the ‘hard palate sign’ on lateral skull radiographs.[5]
Summary
Cherubism is currently listed in Orphanet as a rare disease of unknown prevalence due to its wide clinical spectrum, with approximately 300 cases reported in various ethnic groups worldwide.[1] It is an uncommon, benign, self-limiting fibro-osseous disorder characterised by painless progressive bilateral enlargement of the mandible and maxilla, first described by William Jones in 1933.2,3,4,5 Both hereditary and sporadic cases have been described.[2,4,5] It is inherited as an autosomal-dominant disorder with variable penetrance, and a mutation in chromosome 4p16.3 has been demonstrated.[2,4,6] Recent studies have shown it to be a genetically separate entity from fibrous dysplasia,[2,4,5,6] of which it was initially thought to be a subset.
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