Cherubism is a rare benign congenital fibro-osseous jaw disease of childhood.
The primary cause is a mutation of the gene SH3BP2 on chromosome 4, which causes an excessive activity of a transcription factor that affects bone metabolism.
Affected suffer from multicystic benign bone tumors in the area of the jaws, which manifest themselves in the form of swellings. The disease is limited to the lower half of the face: first bruises are usually seen in the molar regions of the lower jaw, later they also affect the angle of the jaw, the entire lower jaw and eventually the upper jaw.
It comes there to missing tooth systems, tooth breakage disorders as well as malocclusions. The bony growths turn the eyes upwards. The swelling can lead to narrowing of the nasal breathing or disorders of the tongue movement.
The appearance of the face is similar to the projections of the medieval Cherubin representations, hence the name.
The first symptoms usually appear at the earliest after the first year of life and return untreated after puberty. In some cases these can persist.
The severity of the lesions is differentiated into aggressive, non-aggressive and inpatient courses, whereby the clinical picture varies greatly.
However, to improve the mobility of the jaw as well as the psychological situation for the patients, usually a surgical intervention is performed.
Cherubism is inherited in an autosomal dominant way. The penetrance is 100% in male patients and only 50-70% in female ones.