Cherubism: Review of four affected members in a Kuwaiti family

Abstract

Cherubism is a rare autosomal dominant fibro-osseous disorder of childhood, mostly limited to the maxilla and mandible. Extra-cranial skeletal involvement is rare. Post-pubertal involution of the process and jaw remodeling occurs in adulthood. The aim of this case report is to present four cherubs, a father and his three daughters, in whom the diagnosis was made based on history, physical examination, laboratory tests and typical radiological features. The imaging characteristics are discussed and the published literature is reviewed.

Aggressive case of cherubism: 17-year follow-up

“…From a biochemical perspective, the serum levels of phosphorus and calcium are usually normal, but the alkaline phosphatase may be high during the active stages of the disease, in contrast to hyperparathyroidism, in which they are all increased [2][3][4][5][6]14]. In our case, a complete hematological workup was normal, suggesting a stationary phase of the disease process.…”

“…Cherubism is a rare benign fibro-osseous lesion usually characterized by expansion, which is generally painless and bilateral, involving only the mandible or both mandible and maxilla [1][2][3][4]. The lesion is named ''cherubism'' because the appearance of affected patients resembles the ''cherubs'' of Renaissance paintings (round face and a tendency of eyes looking up to the sky) [4][5][6][7].…”

“…Sometimes the lesions tend to show various degrees of involution after puberty. In other cases, surgical intervention is indicated when severe functional and aesthetic problems are present [2,3]. The purpose of this paper is to report an aggressive case of cherubism, emphasizing the absence of a consensus in the literature and medical staff regarding the moment and form of treatment.…”

Case report: CT features of cherubism

“…[12] The symptoms and signs depend on the severity of the condition and range from mild to severe deformity of the jaws - sometimes even causing respiratory distress due to complete nasal obstruction. [78] Dental abnormalities are seen, with serious disturbances in dentition, including premature loss of deciduous teeth and displaced, unerupted, or absent permanent teeth with features of malocclusive dentition. [279] The patient in our report presented with painless swelling of the jaws.…”

“…[78] Dental abnormalities are seen, with serious disturbances in dentition, including premature loss of deciduous teeth and displaced, unerupted, or absent permanent teeth with features of malocclusive dentition. [279] The patient in our report presented with painless swelling of the jaws.…”