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Surgical Correction for Pediatric Epiblepharon and Trichiasis

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Cherubism: A Case Report with Surgical Intervention.

Reinhard E Friedrich¹, Hanna A Scheuer², Jozef Zustin³

¹Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany rfriedrich@uke.de.

Anticancer Research

|June 9, 2016

Summary

Cherubism, a rare genetic jaw disorder, typically resolves naturally. Surgical intervention may be needed for severe cases, but orthodontic tooth movement shows limited effectiveness.

Keywords:

Cherubism SH3BP2 bone tumour giant cell granuloma immunohistochemistry jaw surgery jaw tumour mutation analysis

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Area of Science:

Genetics
Oral and Maxillofacial Surgery
Pediatric Dentistry

Background:

Cherubism is a rare, autosomal-dominant fibro-osseous condition affecting the jaws, causing symmetrical swelling and dental malocclusion.
The genetic basis involves mutations in the src homology 3 binding protein 2 (SH3BP2) gene on chromosome 4p16.3.

Observation:

This case report details surgical interventions in an adolescent with progressive, disfiguring jaw expansions.
The patient exhibited SH3BP2 gene mutation and impaired tooth development and eruption.

Findings:

While cherubism often self-regresses in early adulthood, surgical intervention was necessary due to severe disfigurement and functional impairment.
Surgically assisted orthodontic tooth movement demonstrated limited efficacy in addressing the dental anomalies associated with cherubism.

Implications:

This case highlights the complex management of cherubism, balancing conservative approaches with surgical necessity.
Understanding the limitations of orthodontic interventions is crucial for managing dental complications in cherubism patients.