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Teeth01:15

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The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
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Papillion-Lefèvre Syndrome: Periodontists' Perspective.

Sunil Kumar Biraggari1, K Krishna Mohana Reddy1, J Sudhakar1

  • 1G Pulla Reddy Dental College & Hospital, India.

Case Reports in Dentistry
|November 3, 2015
PubMed
Summary
This summary is machine-generated.

Papillion-Lefèvre Syndrome, a rare genetic disorder, causes severe periodontitis and palmoplantar hyperkeratosis due to a Cathepsin C gene mutation. This case report details a 13-year-old female patient

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Area of Science:

  • Genetics
  • Dermatology
  • Periodontology

Background:

  • Papillion-Lefèvre Syndrome is a rare autosomal recessive disorder.
  • Characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis.
  • Caused by mutations in the Cathepsin C gene on chromosome 11q14.

Purpose of the Study:

  • To report a case of Papillion-Lefèvre Syndrome in a 13-year-old female.
  • To describe the clinical presentation and management of the syndrome.
  • To highlight the link between genetic defect and oral manifestations.

Main Methods:

  • Clinical examination of oral and extraoral tissues.
  • Intraoral radiography to assess bone loss.
  • Periodontal therapy and ongoing maintenance.

Main Results:

  • The patient presented with characteristic palmoplantar hyperkeratosis.
  • Severe periodontitis with gingival inflammation, abscesses, and bone loss was observed.
  • Premature shedding of deciduous teeth was noted.

Conclusions:

  • Papillion-Lefèvre Syndrome requires early diagnosis and comprehensive management.
  • Periodontal therapy is crucial for managing the oral manifestations.
  • Genetic counseling and long-term follow-up are recommended.