Cherubism

Cherubism
Cherubism is a rare genetic disorder characterized by bilateral or asymmetric
enlargement of the jaws, primarily affecting children. It is classified as a
benign fibro-osseous condition and is often associated with distinctive
radiographic and histological features.
Clinical Presentation


Jaw Enlargement:

Patients may present with symmetric or asymmetric enlargement of the
mandible and/or maxilla, often noticeable at an early age.
The enlargement can lead to facial deformities and may affect the
child's appearance and dental alignment.



Tooth Eruption and Loss:

Teeth in the affected areas may exfoliate prematurely due to loss of
support, root resorption, or interference with root development in
permanent teeth.
Spontaneous loss of teeth can occur, or children may extract teeth
themselves from the soft tissue.



Radiographic Features

Bone Destruction:
Radiographs typically reveal numerous sharp, well-defined
multilocular areas of bone destruction.
There is often thinning of the cortical plate surrounding the
affected areas.


Cystic Involvement:
The radiographic appearance is often described as "soap bubble" or
"honeycomb" due to the multilocular nature of the lesions.



Case Report

Example: McDonald and Shafer reported a case involving
a 5-year-old girl with symmetric enlargement of both the mandible and
maxilla.
Radiographic Findings: Multilocular cystic
involvement was observed in both the mandible and maxilla.
Skeletal Survey: A complete skeletal survey did not
reveal similar lesions in other bones, indicating the localized nature
of cherubism.



Histological Features

Microscopic Examination:
A biopsy of the affected bone typically shows a large number of
multinucleated giant cells scattered throughout a cellular stroma.
The giant cells are large, irregularly shaped, and contain 30-40
nuclei, which is characteristic of cherubism.



Pathophysiology

Genetic Basis: Cherubism is believed to have a genetic
component, often inherited in an autosomal dominant pattern. Mutations in
the SH3BP2 gene have been implicated in the condition.
Bone Remodeling: The presence of giant cells suggests
an active process of bone remodeling and resorption, contributing to the
characteristic bone changes seen in cherubism.

Management

Monitoring: Regular follow-up and monitoring of the
condition are essential, especially during periods of growth.
Surgical Intervention: In cases where the enlargement
causes significant functional or aesthetic concerns, surgical intervention
may be considered to remove the affected bone and restore normal contour.
Dental Care: Management of dental issues, including
premature tooth loss and alignment problems, is crucial for maintaining oral
health.