Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features

Abstract

Cherubism is a rare hereditary fibro-osseous childhood disease characterized by bone degradation and fibrous tissue replacement at the angles of the mandible and at the tuberosity areas of the maxilla that leads to prominence of the lower face and an appearance reminiscent of the cherub's portrayal in Renaissance art. This disease has an autosomal dominant hereditary characteristic. The purpose of this report is to analyse laboratory tests, clinicopathological and radiographic features of cherubism and its intraoral manifestations in a patient during 4-years of follow-up, correlating the features observed in this case with those of the literature. Also discussed is the atypical and aggressive behaviour of this case during puberty. No known cases of cherubism involving her biological father, mother, two younger brothers or other relatives were found during the review of the patient's family medical history. The menarche of this female patient occurred when she was 11 years old.At extraoral evaluation, the expression and colour of the face were normal and the eyes did not reveal any abnormalities. At intraoral clinical examination, the absence of the lower right first and second molars and the lower left second molar with bilateral eversion of the vestibule were observed. The mucosa of the right side showed a rigid consistency, whiteness and marks made by the occlusal surfaces of antagonist teeth, but the left side displayed a normal aspect.For radiological study, lateral and panoramic radiographs and computed tomography (CT) were obtained. The images showed bilateral multilocular lesions located in the body, angle, ramus and coronoid process of mandible, not affecting the condyles. In the right side, with the absence of the lower first molar, the second molar was found dislocated to the base of the mandibular bone and the third molar was directed towards the lingual cortex and mandibular angle. Their roots were incompletely formed. In the left side, the lower second molar was located below the first molar, which presented severe resorption of the distal root. The lower third molar was floating within the lesion. The maxilla showed absence of the disease and absence of the first left and right molars (Figure 2)

Cherubism: Clinicoradiographic Features and Treatment

“…Cherubism is a rare disease of autosomal dominant inheritance characterized by painless, frequently symmetrical, enlargement of the jaws as a result of the replacement of bone with fibrous tissue [1-16,20,29]. The disease is also called familial fibrous dysplasia of the jaws, but recent genetic investigation has shown it to be a separate entity at the molecular level [7].…”

“…Cherubism is usually diagnosed in children aged 2 to 7 years, with the observation of exacerbation of its manifestations within the first 2 years after diagnosis [5,32] and of stabilization or even regression after puberty [1-14,20]. Boys are more affected than girls at the proportion of 2 : 1 [3-6,14,33].…”

Cherubism, a rare childhood disease with a brief review of literature

“…1,5 The disorder was first described in 1933 by Jones as a familial fibro-osseous disease involving the maxilla and the mandible. 1,5 He named it initially -Familial Multilocular Cystic Disease of the Jaws‖.…”

“…1,5 The disorder was first described in 1933 by Jones as a familial fibro-osseous disease involving the maxilla and the mandible. 1,5 He named it initially -Familial Multilocular Cystic Disease of the Jaws‖. Consequently, in 1938, Jones rechristened it as -Cherubism‖ to reflect characteristic chubby cherubic facial appearance of the children similar to those of Cherubs portrayed in Renaissance religious paintings.…”

“…In general, cherubism does not affect other parts of the skeleton or osseous metabolism. 5,10 Cherubism is reported to be associated with some well described syndromes, including neurofibromatosis type 1, Noonan-like/multiple giant cell lesion syndrome, Ramon syndrome, and JaffeCampanacci syndrome. 11,12 Ramon and Engelberg 13 have proposed a grading system for cherubism based on the area of involvement, as follows:…”