How is Cherubism diagnosed?

Cherubism is a rare genetic disorder that primarily affects the bones of the face and jaw. It is typically diagnosed based on a combination of clinical features, radiographic imaging, and genetic testing.

Clinical Evaluation: The first step in diagnosing Cherubism involves a thorough clinical evaluation by a healthcare professional, such as a dentist, oral and maxillofacial surgeon, or geneticist. They will examine the patient's facial features and look for specific signs and symptoms associated with Cherubism.

Facial Features: Cherubism is characterized by abnormal growth and development of the facial bones, particularly the lower jaw (mandible) and upper jaw (maxilla). The most prominent feature is the appearance of swollen or puffy cheeks, giving the affected individual a cherubic or angelic facial appearance. This is often more noticeable in childhood and may improve or stabilize as the individual reaches adulthood.

Dental Examination: Dentists play a crucial role in diagnosing Cherubism as it affects the jawbones. They will assess the teeth and gums for any abnormalities, such as delayed eruption, overcrowding, or displacement of teeth. Additionally, they may look for dental cysts or tumors, which can be associated with Cherubism.

Radiographic Imaging: X-rays or other imaging techniques are essential for confirming the diagnosis of Cherubism. These imaging studies help visualize the extent of bone involvement and assess the characteristic changes in the facial bones. The affected areas typically show bilateral and symmetrical expansion of the jawbones, with a multilocular or soap-bubble appearance.

Genetic Testing: Once the clinical and radiographic findings strongly suggest Cherubism, genetic testing is often performed to confirm the diagnosis. A blood sample is taken from the individual, and DNA analysis is conducted to identify mutations in the SH3BP2 gene. The majority of Cherubism cases are caused by mutations in this gene, although rare cases with different genetic causes have also been reported.

Biopsy: In some cases, a biopsy may be performed to rule out other conditions that can mimic Cherubism. A small sample of the affected bone may be taken and examined under a microscope to look for specific histological features associated with Cherubism.

It is important to note that the diagnosis of Cherubism should be made by a qualified healthcare professional with expertise in genetic disorders and craniofacial abnormalities. They will consider the clinical presentation, radiographic findings, genetic testing results, and potentially perform a biopsy if necessary to reach an accurate diagnosis.