Cherubism is a congenital childhood disease of autosomal dominant
inheritance. This disease is characterized by painless bilateral
enlargement of the jaws, in which bone is replaced with fibrous tissue.
The condition has
Literature was reviewed about cherubism, emphasizing the relevant clinicoradiographic features and treatment. Literature was selected through a search of PubMed and Scielo electronic databases. The keywords used for search were adolescent, cherubism, cherubism/physiopathology, cherubism/treatment, cherubism/radiography. A manual search of the reference lists of the identified articles and the authors' article files and recent reviews was conducted to identify additional publications. Those studies that described new features about cherubism were included in this review.
In total 44 literature sources were obtained and reviewed. Studies that described new features about cherubism physiopathology, diagnostics and treatment were reviewed.
Despite the exceptions, cherubism is a clinically well-characterized disease. In cases of a suspicion of cherubism, radiographic examination is essential since the clinical presentation, the location and distribution of the lesions may define the diagnosis. Histopathological examination is complementary. Nowadays, genetic tests should be used for final diagnosis of cherubism.
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 [
A molecular pathogenesis of cherubism has been proposed, with the detection of
a mutation in the gene encoding SH3 - binding protein 2 (SH3BP2) [
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 [
Clinically, cherubism is characterized by bilateral enlargement of the mandible
and/or maxilla, causing a rounded face and swollen cheeks accompanied by upward-looking
eyes. This condition gives the patient the appearance of cherubs depicted in baroque
artwork [
The purpose of the present paper was to review the literature and to report the most important aspects of cherubism in order to facilitate the study of this disease.
Literature was reviewed about cherubism, emphasizing the relevant clinicoradiographic features, physiopathology and treatment. Literature was selected through a search of PubMed and Scielo electronic databases. The keywords used for search were adolescent, cherubism, cherubism/physiopathology, cherubism/treatment, cherubism/radiography. A manual search of the reference lists of the identified articles and the authors' article files and recent reviews was conducted to identify additional publications. Those studies that described new features about cherubism physiopathology, diagnostics and treatment were included in this review.
Although rare, cherubism is part of the differential diagnosis of bone diseases
affecting the maxillomandibular complex and the professionals should therefore have
knowledge of the disease. The most accepted theory regarding the pathogenesis of
cherubism is its association with an autosomal dominant gene, i.e., family inheritance
[
According to Hyckel et al. [
Patients with cherubism, generally males at a proportion of 2 : 1 [
In cases where the clinical symptoms are typical to cherubism, the final diagnosis
should be based on radiographic findings and histology, because the clinical picture
of cherubism at initial examination are similar to other lesions that cause mandible
enlargement, such as autosomal dominant osteosclerosis [
Dental alterations associated with cherubism include early exfoliation of deciduous
teeth, impaction and/or displacement of teeth [
With regard to biochemical parameters, serum calcium and phosphorus concentrations
and TSH, FSH, LH, T4 and T3 hormone levels are usually within normal limits, but
alkaline phosphatase levels might be elevated [
Radiographically, cherubism is characterized by expansive radiolucent, generally
multiloculated lesions clearly delimited by cortical bone and distributed bilaterally
in the posterior quadrants of the mandible and/or maxilla [
The lesions of cherubism can be classified according to their extent: grade I,
bilateral involvement of the ascending ramus of mandible; grade II, bilateral involvement
of the ascending ramus of mandible and maxillary tuberosity; grade III, complete
involvement of the maxilla and mandible compromising the coronoid processes and
condyles [
Radiographically identified multilocular radiolucent lesions mainly are affecting
the body and ascending ramus of the mandible. The coronoid process might be involved
[
Observed radiographic appearance might be confused with other lesions containing
giant cells: hyperparathyroidism [
The radiographic techniques used for the diagnosis of suspected cases of cherubism
include posteroanterior radiography of the jaws [
Similarity with central giant cell lesions and hyperparathyroidism is also present
in the histological findings. As observed in these conditions, in cherubism multinucleated
giant cells are found scattered throughout collagenous and vascularized fibrous
connective tissue with the observation of dense connective tissue which might be
highly or poorly cellularized and contain a smaller or larger number of collagen
fibbers, respectively, depending on the progression of the lesion [
Photograph of a 7 year old boy with cherubism showing bilateral swelling at the mandibular angles.
Orthopantomograph of the same patient as in Figure 1. Note the bilateral swelling caused by expansion related to multilocular bone lesions of the angle and ascending ramus of the mandible and coronoid process.
Photograph of a 9 year old boy with cherubism showing bilateral swelling of the angle and ascending ramus of the mandible, stretching the skin in the nasogenial region.
Orthopantomograph of the same patient as in Figure 3. The image reveals bilateral swelling of the angle, ascending ramus of the mandible and coronoid process caused by multilocular bone lesions. Note the lack of involvement of the condyles.
Photograph of the same patient as in Figure 3 after 9 years of follow-up, demonstrating expressive progression of the disease.
Orthopantomograph of the same patient as in Figure 5, revealing radiographic alterations characterized by greater radiopacity resulting from bone deposition and confirming the lack of involvement of the condylar regions. Note the malpositioning and retention of teeth.
Laboratory tests contribute to the characterization of disease since hematological
parameters such as calcium and phosphorus are normal and only alkaline phosphatase
levels might be elevated [
Cytogenetic and molecular studies have being used on cherubism diagnostic, such
as fluorescence
Once the diagnosis is established, therapeutic management should be evaluated.
Treatment options include waiting for stabilization and spontaneous remission of
the disease, tooth extraction in areas showing fibrous alterations, cosmetic osteoplasty
of the affected jaws after regression of disease activity or, in the case of functional
impairment, curettage of the lesions and treatment with calcitonin [
According to Novack and Faccio [
A study by von Wowern [
A prosthetic treatment for a cherubism patient was reported by Yilmaz at al.
[
Despite the exceptions, cherubism is a clinically well-characterized disease which confers to the patient the appearance of a baroque cherub; therefore, this derived the name of the disease. In cases of a suspicion of cherubism, radiographic examination is essential since the clinical presentation and the location and distribution of the lesions may define the diagnosis. Histopathological examination is complementary. Nowadays, genetic tests should be used for final diagnosis of cherubism.
Knowledge of the clinical and radiographic alterations observed in patients with cherubism is important since the dentist might be the first professional sought for a diagnosis of this disease.
The authors report no conflicts of interest related to this study.