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[Cherubism and surgery]

J M Vaillant1

  • 1U.F.R. de Chirurgie maxillo-faciale, de Chirurgie plastique et de Stomatologie, C.H.U. Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris.

Bulletin Et Memoires De L'Academie Royale De Medecine De Belgique
|January 1, 1995
PubMed
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Cherubism is a rare hereditary bone disorder causing enlarged cheeks in children. While it typically stabilizes by puberty, extensive cases may require surgical intervention for significant improvement.

Area of Science:

  • Genetics and Bone Biology
  • Pediatric Diseases

Background:

  • Cherubism is a rare autosomal dominant genetic disorder.
  • Characterized by progressive, symmetrical enlargement of the jawbones, particularly the mandible and maxilla.
  • Leads to characteristic facial swelling, resembling cherubs in Renaissance art.

Observation:

  • Facial swelling typically appears in early childhood (2-7 years).
  • Bone lesions are often bilateral and symmetrical, affecting the posterior mandible and maxilla.
  • Associated symptoms can include delayed tooth eruption, malocclusion, and infraorbital hypoplasia.

Findings:

  • The disease usually shows significant regression or stabilization around puberty.
  • Histopathological examination reveals characteristic fibro-osseous tissue with multinucleated giant cells.

Related Experiment Videos

  • Genetic mutations in the SH3BP2 gene are identified as the primary cause in most cases.

    • Implications:

    • Early diagnosis and monitoring are crucial for managing potential complications.
    • Surgical intervention may be necessary for severe or disfiguring cases, aiming to restore facial aesthetics and function.
    • Understanding the genetic basis offers potential for future targeted therapies.