Introduction and review
Cherubism, or familial intraosseous fibrous expansion of the mandible, is a disease characterized by the presence of giant cells and fibrous tissue proliferation. Cherubism was first described by Jones 1 and was referred to as familial multilocular cystic disease of the mandible 2. This disease is usually manifested in the maxillofacial region only, and rarely it may affect ribs and other long bones 1.
Cherubism is a benign, self-limiting fibro-osseous disorder characterized by bilateral expansion of the mandible, the maxilla, or both. The lesions are usually symmetrical and painless 3. The condition is usually observed in patients between 2 and 5 years of age. The word ‘cherubism’ refers to the spherical facial appearance of angels painted during the Renaissance era. Cherubism received its name because of an angel-like appearance of the patients (chubby and upward-directed look). The characteristic spherical and symmetrical chubby facial appearance observed in cherubism is diagnostic of the condition 1,2,4,5. Although cherubism appears to be inherited as an autosomal dominant trait, with 70% in the female population and 90% in the male population, other patterns of inheritance and association with syndromes have been reported 6–8. Around puberty, the condition begins to regress until 30 years of age, when lesions frequently are not detectable. The literature shows that the lesion tends to occur twice as often in the mandible than in the maxilla 9–11. Orbital involvements in cherubism may develop beyond puberty after stabilization or regression of the lesion of the jaws. Patients with cherubism should be routinely evaluated by an ophthalmologist. Ramon and Engelberg 12 proposed a grading system for cherubism: grade 1, involvement of both mandibular ascending rami; grade 2, same as grade 1 plus involvement of both maxillary tuberosities; grade 3, massive involvement of the whole maxilla and mandible, except the condylar processes; and grade 4, same as grade 3 with involvement of the floor of the orbits causing orbital compression 12. The authors in this article present a case report of a 20-year-old female patient with swelling on both sides of the lower and upper jaw (grade 3).
A 20-year-old female patient presented to the Oral and Maxillofacial Surgery Department, Faculty of Oral and Dental Medicine, Cairo University, with bilateral swellings in the body of the mandible and bilateral bony enlargement in the body of the maxilla without any pain. History revealed that it started as a small swelling during childhood and progressively increased in size, and then remained a stabilized lesion without further increase. An extraoral clinical examination showed a swelling of the mandible bilaterally, roughly oval in shape, hard in consistency with well-defined margins and associated thickening of the inferior border anteriorly and posteriorly (Fig. 1a and b).
Swelling on the left side was slightly larger compared with the lower border of the mandible. On palpation, temperature of the overlying skin was normal and no tenderness elicited on palpation. Intraorally, there was a visible swelling present buccally and lingually with few teeth missing.
An orthopantomograph, computed tomography, and 3D computed tomographic view radiograph of the patient showed multilocular radiolucency appearance of the jaws, with numerous unerupted and displaced teeth appearing to be floating in cyst-like spaces (Fig. 2a and b).
Histopathological examination revealed the presence of granulation tissue with vasodilated blood capillaries, around which numerous multinucleated giant cells were present (Fig. 3). Correlating clinical, radiological, and histological findings, the final diagnosis of cherubism was established. Postsurgical clinical and orthopantomographic evaluation shows re-establishment of normal bone contour.
Cherubism is a rare hereditary fibro-osseous childhood disease characterized by bone degradation and fibrous tissue replacement at the angles of the mandible and the tuberosities of the maxilla that leads to prominence of the lower face. The disorder was first described in 1933 by Jones 1 as a familial fibro-osseous disease involving the maxilla and the mandible 1. According to the WHO classification, cherubism belongs to a group of non-neoplastic bone lesions that affect only the jaws 13. Anderson and McCleden reviewed 65 cases from 21 families and suggested that the pattern of inheritance was autosomal dominant 14. Patients typically present with a painless symmetric enlargement of the posterior region of the mandible, which achieves considerable size before it is detected, and it can produce severe facial deformity 15.
The first signs of manifestation of the disease are generally observed at about 2 years of age, followed by accelerated growth from 8 to 9 years and spontaneous interruption after puberty. The clinical appearance may vary from a barely discernible posterior 16 swelling of a single jaw to a marked anterior and posterior expansion of both the jaws, resulting in masticatory, speech, and swallowing difficulties. Intraorally, it presents as a hard, nontender swelling palpable in the affected area. Submandibular and upper cervical lymphadenopathy are common, although reactive regional lymphadenopathy, particularly of the submandibular lymph nodes, usually subsides after 5 years of age. Cherubism is reported to be associated with some well-described syndromes, including Neurofi bromatosis type 1, Noonan-like/multiple giant cell lesion syndrome, Ramon syndrome, and Jaffe-Campanacci syndrome 17.
Radiographically, it appears as numerous well-defined multilocular radiolucencies of the jaws. The borders are distinct and divided by bony trabaculae. In the mandible, it causes thinning and expansion of the cortical plates, with occasional perforation. Unerupted teeth are often displaced and appear to be floating in the cyst-like spaces 18. Marck and Kudryk 19 reported that conventional radiography provided a limited image because it is only two dimensional. In contrast, computed tomography provided a realistic picture of the lesions, showing some aspects that otherwise would not be demonstrable due to superimposition and the anatomical complexity of the jaws. In addition, the 3D formatting contributes to the diagnosis 4. Histolologically, the lesions are composed of a vascularized fibrous stroma containing multinucleated giant cells, resembling giant cell granuloma 17. The genetic basis for cherubism was identified in 1999, when the gene responsible for it was mapped to chromosome 4p16.3 20. Mutation of the gene encoding for fibroblast growth factor receptor III has also been found in some cases of cherubism 21. Histopatholigically, the lesion has been characterized into three subtypes: I, predominance of multinuclear cells; II, predominance of inflammatory activity; and III, predominance of fibrosis. As the patient grows, the jaw bone tends to resolve and progressively result in a normal jaw configuration 20. In addition, several authors have reported that despite being a self-limiting condition that subsides with age, it can cause serious orbital abnormalities and impairment of hearing 15. Being a self-limiting condition, treatment is mainly for the esthetic needs and for unerupted teeth. Liposuction has been proposed to reduce the mass of the lesion in particular cases 3. Curettage alone, or in combination with surgical contouring, has been considered the treatment of choice and some authors have reported a massive growth of the lesion after surgery. Some authors point medical therapy in the form of calcitonin as a possibility to curtail the disease and obviate the need for surgery 20.
Cherubism is a rare benign bone disease with autosomal dominant inheritance. The signs and symptoms depend on the severity of condition and range from no clinically or radiographically detectable features to deforming the mandible or the maxilla with respiratory embarrassment and impaired vision and hearing. Cherubism is a clinically well-characterized disease presenting bilateral expansion of the jaw. Clinical presentation along with the radiographic examination leads to the diagnosis. Histopathological examination is complementary. Nowadays, genetic tests should be used for the final diagnosis of cherubism. Being a self-regressing condition, generally, minimally invasive treatment is performed; however, sometimes surgical management is required for cosmetic reasons.
Conflicts of interest
There are no conflicts of interest.
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