Endocrine Abstracts

Background: A 5 year old boy who had been born at 29 weeks gestation presented to the paediatrics clinic with abnormally chubby cheeks. Our patient’s great-grandmother had had a similar appearance and his uncle had recently been diagnosed with giant cell granuloma of the jaw. After extensive imaging and genetic work-up, our patient was diagnosed with cherubism: a condition so named because of the resemblance to cherubic putti in Italian art.

Cherubism is a skeletal dysplasia which usually manifests as benign symmetrical swelling of the mandibular and maxillary regions: it normally regresses in adolescence or early adulthood. We review his case and discuss his diagnosis of cherubism as well as exploring some of the common issues affecting children with this rare disease.

Objectives and hypothesis: To gain a more full understanding of the diagnosis of cherubism and the current evidence surrounding treatment.

We specifically addressed the following questions:

Is this diagnosis related to the child’s prematurity?

Is there a link between this diagnosis of cherubism and the uncle’s diagnosis of giant cell granuloma?

Is cherubism related to the child’s developing challenging behaviour?

Method: The child was followed up from his presentation until his 10th year and his notes were reviewed. A literature review was carried out to find answers to the questions surrounding his case.

Results: There is no link between preterm birh and cherubism.

Whilst clinically cherubism may resemble giant cell granuloma, it is unlikely that this boy’s cherubism is linked to his uncle’s giant cell granuloma, presuming both diagnoses are correct.

Cherubism, like many pathologies resulting in deformity, has been linked to challenging behaviour. It is impossible to tell if this child’s behaviour problem is related to his cherubism, his prematurity, neither, or both.

Conclusion: This case report gives an overview of cherubism including presentation, progression, complications and current evidence for treatment which suggests that surgical resection should be reserved for very severe cases. There is no evidence supporting medical therapy with calcitonin. The mainstay of treatment involves the prevention of complications such as loss of dentition and psychosocial upset.