Answer:
Cherubism is a rare, benign, inherited fibro-osseous condition characterized by firm, painless swellings of the jaws, producing a characteristic facial appearance. Both the mandible and maxilla may be affected, and the condition is usually bilateral. Patients are normal at birth; however, by their second year of life they develop a fullness of the lower half of their face and retraction of the lower eyelids that exposes a rim of sclera below the iris. The facial appearance is similar to that of a Renaissance cherub gazing toward heaven. The onset of jaw swelling is followed by a period of rapid growth of the jaw lesions, usually lasting until the age of 7 years, after which the lesions start to subside. At puberty, cherubic lesions often begin to undergo spontaneous regression. In most cases when the patient enters adulthood, only minimal enlargement of the jaws is evident. Cherubism appears to be a hereditary disease with an autosomal dominant pattern of inheritance, although sporadic cases occur. Penetrance of the disease appears to be 100% in males and 50% to 70% in females. Because the process is considered self-limiting and improves with age, treatment is dictated by cosmetic and functional needs. It is usually recommended that surgical intervention be delayed until puberty, if possible, because lesions often undergo spontaneous regression.
It has been suggested that cherubism is a developmental disturbance of the bone-forming mesenchyme, possibly a form of fibrous dysplasia. . Fibrous dysplasia is a benign pathologic condition of bone in which fibrous tissue gradually expands and replaces normal bone. It is a primary developmental abnormality of bone-forming mesenchyme. The disease usually begins in childhood and progresses throughout puberty and adolescence. Fibrous dysplasia may be monostotic or polyostotic. The physical findings varies depending on the bone involved. Skull involvement occurs in 27 percent of monostotic and up to 50 percent of polyostotic patients. Frontal, orbital and sphenoid bones are frequently involved. Malignant degeneration of fibrous dysplasia is 0.4 percent, especially in patients with previous radiation treatment.
The mental status of the patient is usually normal but neurologic complications from compression such as fifth nerve impairment, hearing loss, vision loss, and seizure disorders have been reported.
Treatment is aimed at correcting or preventing functional problems and achieving normal facial aesthetics. Conservative shaving or contouring was the policy of treatment before craniofacial surgeons developed techniques for radical excision and reconstruction. Aggressive, radical surgery can prevent recurrence, stop further deformity and functional disturbances.