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[Man with cherubism].

W Hart1, D H Schweitzer, P J Slootweg

  • 1Reinier de Graaf Gasthuis, afd. Inwendige Geneeskunde, Delft.

Nederlands Tijdschrift Voor Geneeskunde
|February 9, 2000
PubMed
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Cherubism, a genetic disorder causing jaw lesions, typically regresses after puberty. This case highlights successful management of a cherubism flare-up in adulthood using bisphosphonates and calcitonin.

Area of Science:

  • Genetics
  • Oral and Maxillofacial Surgery
  • Endocrinology

Background:

  • Cherubism is a rare, autosomal dominant genetic disorder characterized by benign, bilateral, painless enlargement of the jaw.
  • Typically manifesting in early childhood, cherubism progresses until puberty, after which it spontaneously regresses.

Observation:

  • The case involved a male diagnosed with cherubism at age 6, with a family history of the condition.
  • While cherubism often requires no treatment, this patient needed surgical and odontological interventions.
  • A significant flare-up occurred at age 22, necessitating further medical intervention.

Findings:

  • The patient received a 1-year course of calcitonin, followed by bisphosphonate therapy.
  • These treatments led to a notable diminution of cherubism symptoms during the adult phase of the disease.

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Implications:

  • This case suggests that pharmacotherapy, including calcitonin and bisphosphonates, may be effective in managing cherubism flare-ups in adulthood.
  • It expands the understanding of cherubism management beyond the typical pediatric regression, indicating potential therapeutic options for persistent or recurrent disease.