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Cherubism: best clinical practice.

Maria E Papadaki1, Steven A Lietman, Michael A Levine

  • 1Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA.

Orphanet Journal of Rare Diseases
|May 30, 2012
PubMed
Summary
This summary is machine-generated.

Cherubism, a genetic jaw disorder, presents as benign fibro-osseous lesions that typically resolve by adulthood. Management focuses on observation, with surgery reserved for severe cases impacting function or aesthetics.

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Area of Science:

  • Genetics
  • Oral and Maxillofacial Surgery
  • Pediatric Dentistry

Background:

  • Cherubism is a rare genetic skeletal dysplasia affecting the jawbones.
  • Characterized by bilateral, symmetric fibro-osseous lesions, it's often linked to SH3BP2 gene mutations.
  • Lesions manifest in childhood, progressing until puberty before regressing by age 30.

Purpose of the Study:

  • To review the clinical presentation, natural history, and management of cherubism.
  • To differentiate between aggressive and non-aggressive lesion behaviors.
  • To guide treatment decisions based on disease progression and patient age.

Main Methods:

  • Review of clinical and radiographic findings in cherubism patients.
  • Classification of fibro-osseous lesions based on behavior (quiescent, non-aggressive, aggressive).
  • Analysis of disease progression from childhood to adulthood.

Main Results:

  • Cherubism lesions typically grow until puberty and then regress.
  • Aggressive lesions in young children can cause significant dental and bone abnormalities.
  • Quiescent lesions are common in older individuals with minimal progression.

Conclusions:

  • Cherubism is generally a self-limiting condition requiring watchful waiting.
  • Surgical intervention is reserved for functional impairments or aesthetic concerns, preferably when lesions are quiescent.
  • Early surgery may be necessary for aggressive lesions causing airway obstruction or severe functional deficits.