Late-Onset Nonhereditary Cherubism: First Reported Case in Ghana With Review of Diagnostic and Management Challenges

Cherubism is a rare genetic disorder characterised by multilocular cystic lesions in the mandible and/or maxilla, which result in the typical cherub-like face. Two forms of cherubism exist-hereditary (familial) and nonhereditary (nonfamilial)-and it usually occurs amongst children aged 2-7 years. The disorder is caused by a mutation in the SH3BP2 gene on Chromosome 4p16.3, essential for jaw development. The prognosis of cherubism shows that lesions increase in size and plateau at puberty, after which the lesions begin to regress and become undetectable. We present the first case of cherubism to be reported from Ghana.

Our case is a nonhereditary (nonfamilial) cherubism in a 21-year-old Ghanaian woman. The patient presented with bilateral asymmetrical facial swelling, jaw pain, trismus, toothache, tooth mobility and tooth loss. Also, the patient had facial disfigurement, weight loss, cough, headache, seizures and dizziness. Her family history was noncontributory. The results of a head computed tomography (CT) scan indicated chronic left sphenoid sinusitis and an enlargement of the entire mandible, with multilocular expansile lytic (soap bubble) appearance. The mandibles had ground glass matrix areas associated with subtle cortical destruction and dental deformities suggestive of Grade III cherubism.

Our patient had the onset of the disorder at age 12 but presented to the hospital at the age of 21. The reason why our patient did not seek medical help beforehand could be attributed to sociocultural beliefs, financial constraints and/or limited access to healthcare amenities. Treatment protocols for cherubism may include observation, surgery and medical therapy. Our patient resorted to the use of traditional medicine and spiritual/religious consultations for treatment. Our patient experienced discrimination due to the disease and had lost job, friendship and romantic relationship opportunities because of cultural beliefs, stereotypes and stigmatisation. Her facial disfigurement and the deformities are associated with bad omens and negative spirits in Ghana. When diagnosed, patients suffering from cherubism must be encouraged to seek information, education and appropriate individualised evidence-based management from hospitals. Treatment of the disease should be supported with psychological counselling and community sensitisation wherever possible.