Cherubism
Annika Klein, Lauren Lui, Madalynn Hansen, Morgan Lorimer Gerhardt, and Sean Kerns
Symptoms & Characteristics
Cherubism is a rare osseous disorder of children and adolescents which is usually diagnosed between the ages of 2 and 7.
Individuals with Cherubism show characteristics of a baroque cherub (A nude chubby child figure often found with wings from the baroque period), hence the name “cherubism”.
Males are affected more than females at a 2:1 ratio.
- Symptoms include:
- Abnormal Mandible Morphology
- Broad Jaw
- Swollen Cheeks
- Bone Cysts
- Slight upward looking eyes
- Severe cases may involve difficulty with vision, breathing, speech, and swallowing.
Diagnosis is strongly suggested by bilateral, relatively symmetric jaw involvement that is limited to the maxilla and mandible
Histology & Differential Diagnosis
Histologically, the lesions are composed of a vascularized fibrous stroma containing multinucleated giant cells, resembling giant cell granuloma.
Shown in this figure is the "typical" histopathology of Cherubism. This shows the typical finding, near the bone and within the stroma, of multinucleated giant cells.
However, Cherubism cannot be diagnosed by histology alone because they are not distinguishable from other giant cell lesions of bone.
Nowadays, genetic tests should be used for the final diagnosis of cherubism, as various other disorders--such as Fibrous Dysplasia, Noonan Syndrome, and Ramon Syndrome--can present with similar symptoms.
Biochemistry of the Disease
There has been a detection of a mutation in the gene encoding SH3-binding protein 2 (SH3BP2) and possible degradation of the Msx-1 gene.
Testing of the gene SH3BP2 can determine whether a mutation is present and can confirm the clinical diagnosis of cherubism.
SH3BP2 functions as a cytoplasmic adaptor protein that regulates natural killer, basophilic, and T cells. Mutations in this gene results in Cherubism.
The Msx-1 gene regulates mesenchymal interaction during craniofacial morphogenesis. When there is a mutation in this gene, it causes different phenotypes depending on the location. Most variants cause tooth agenesis.
SH3BP2 interactions and pathway for SH3BP2- increase in osteoclastogenesis
Several point mutations in SH3-binding protein SH3BP2 have been identified including a mutation of proline 418, glycine 420 and arginine 415.
Cherubism is inherited in an autosomal dominant pattern.
This means that one copy of the altered gene in each cell is sufficient to cause the disorder.
Because of this, patients and families are often concerned of the possibility of genetic transmission to future children.
Though this condition is known to be hereditary there are some cases with no detectable family history. This results from new mutations in the gene.
Living with Cherubism
Another possible effect of the disease is root resorption or tooth displacement when lytic lesions develop. This can cause the secondary dentition to appear to be missing or floating in the lesions. Other dental concerns include malocclusion.
Accordingly, the obvious concern of patients and their families is the challenge to quality of life.
Social effects include concern of facial disfigurement and the aforementioned genetic transmission to future children.
Psychosocial considerations may include support groups and genetic counseling to help with management of these concerns.
As for treatment of the disease, minimally invasive treatment is generally done since it is a self-regressing condition with variable pain; however, sometimes surgical management is required for cosmetic reasons.
The most recommended treatment for cherubism is to wait for the disease to regress and then evaluate for other potential treatment options such as tooth extraction, cosmetic osteoplasty to repair jaw bone, or prescribed calcitonin to treat lesions.
Social Determinants of Health
While external influences are not known to exacerbate manifestation of Cherubism, social determinants can affect patients' diagnosis, management, and treatment of the disease.
For example, affected individuals, particularly those who live in rural areas or do not have access to transportation, are faced with limited access to care.
Economic stability also plays a role with individuals diagnosed with Cherubism. Income, employment, and debt are all social factors that might affect the patient’s overall health and access to care.
Access to quality insurance and medical bills related to appointments, testing, and surgery can vary, and consequently impact patient outcomes.
Cherubism in Rural Minnesota
Big Stone, Freeborn, Goodhue, Martin, and Wadena Counties
Populations range from 5,000-15,000 people in each county, with an outlier of 50,000 people in Goodhue.
Number of hospitals range from 3-6 per county
Each of these counties have few to no specialty dental clinics.
The counties who have specialty clinics, primarily orthodontics, are Goodhue, Wadena, and Freeborn.
Each of these counties range 50-200 miles away from the Twin Cities, which makes traveling to appointments for speciality care difficult.
Cherubism would require appointments with many specialists from oral surgery to primary care. Orthodontics, for example, would be necessary to deal with patient's malocclusion. This would not be available in the rural counties listed above.
