Table 1 Comparison of the characteristics of Cherubism and idiopathic CGCGs
From: Bilateral Central Giant Cell Granuloma of the mandibular angle in three females from the same family
Cherubism | Idiopathic CGCG | |
|---|---|---|
Aetiology | Caused by a gain-of-function mutation in the gene coding a c-Abltyrosine kinase-binding protein (SH3BP2) located on the short arm of chromosome 4 | The true aetiology is unknown and still controversial. It was thought that it is a reparative component. However, the evidence is not available to classify the lesions as reparative. The CGCG is thought by many to be reactive, but it is classified as a benign, non-neoplastic lesion. |
Gender distribution | More diffused in males (or equally diffused between males and females) | More diffused in females |
Age distribution | More prevalently diagnosed in children | CGCGs mainly affect patients between 10 and 30 years |
Facial aspect | Swelling of bilateral mandibular angle region, typical of Cherubism (accompanied by hypertelorism) | Normal |
Other signs | A marked cervical lymphadenopathy is common. | None |
Definition (concept) | Cherubism is an autosomal dominantly inherited condition, with variable expressivity, that is characterized by multi-quadrant radiolucent lesions of the jaws and a progressive and clinically, symmetrical enlargement of the mandible and/or the maxilla. | Central giant cell granuloma (CGCG) is defined by the World Health Organization as an intraosseous lesion. The biologic behaviour ranges from quiescent to aggressive, with pain, root resorption and a tendency to recurrence after puberty. |
Mandibular Lesions | Symmetrical mandibular lesions | Lesions are typically found unilaterally in the frontal region of the mandible. Sometime the lesion is located in a mandibular angle. |
Family occurrence | There is usually a familial history of similarly affected family members. | Sometime they show an autosomal inheritance. In these cases, when bilateral, they are defined cherubism-like lesions. |
Histological aspect of lesions | The lesions appear microscopically generally indistinguishable from CGCG, except occasionally, when a fairly characteristic condensation of perivascular collagen is evident | Cellular fibrous tissue that contains multiple foci of haemorrhage, aggregations of multiple nucleated giant cells, and occasionally trabeculae of woven bone. |
Images and Rx aspects | Multi-quadrant radiolucent lesions of the jaws At the Rx can be observed a marked displacement or agenesia of second and third molars as well as premature exfoliation of primary teeth. | Osteolytic lesions of the jaw |
Differential diagnosis | Neurofibromatosis type 1, gingival fibromatosis as well as Noonan’s syndrome, all of them are Rasopathies | Neurofibromatosis type 1, gingival fibromatosis as well as Noonan’s syndrome, all of them are Rasopathies |
Treatments | Treatment of lesions consists of local curettage, jaw contouring, intralesional steroid injections, and systemic calcitonin administration as well | Commonly treated by surgical curettage. |
Long-term clinical management | Long-term follow-up | Long-term follow-up |
Prognosis | The regression of the lesions is often seen following puberty | These lesions tend to increase before the puberty (perhaps due to ovarian hormones) and to stabilize after puberty. |