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PAPILLON LEFEVRE SYNDROME
MADE BY:
DR.MISBAH QAISER
It is an autosomal recessive inherited disorder of
keratinization, characterized by redness, thickening of the
soles and palms, and severe destructive periodontal disease
affecting both primary and permanent teeth, caused by
mutations in cathepsin C (CTSC) gene
CATHEPSIN GENE:
• It is a lysosomal enzyme, coded by gene CTSC.
• It is found in neutrophils and leukocytes.
• It is important in protein degradation and activation of PMN and T-cells
CLINICAL PRESENTATION:
EXTRA ORAL:
• Diffused transgredient palmer-plantar keratosis develops
• Which can lead to nail dystrophy, hyperhidrosis, kertosis on elbow and knees.
• Lesions may vary in color, texture, and manifestation; they appear as white, brown, red, and scaly patches
which undergo crustation, cracking, and deep fissuring.
• Skin lesions get aggravated during cold weather and patients experience pain when walking.
ORAL MANIFESTATION:
• Advanced peridontitis that is seen in both the deciduous and the permanent dentitions.
• Upon eruption of the deciduous teeth, diffuse hemorrhagic and hyperplastic gingivitis develops in
association with rapid loss of periodontal attachment.
• Teeth appear to be floating in soft tissue radiographically due to extensive loss of osseous support.
• At 4 to 5 years of age, all primary teeth typically have been lost or extracted.
• By the age of 15, all permanent teeth have been lost in most affected individuals.
• A. actinomycetemcomitans has been related directly to the periodontal destruction.
• Less frequent findings are:
 impaired somatic development
 Ectopic calcification of the falx cerebri and coronoid plexus
 Pyoderma
 Pneumonia
 Hepatic abscesses.
HISTOPATHOLOGY
• Hyperplastic crevicular epithelium with exocytosis.
• The underlying tissue has increased vascularity and a mixed inflammatory
infiltrate.
Papillon lefevre syndrome

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Papillon lefevre syndrome

  • 1. PAPILLON LEFEVRE SYNDROME MADE BY: DR.MISBAH QAISER
  • 2. It is an autosomal recessive inherited disorder of keratinization, characterized by redness, thickening of the soles and palms, and severe destructive periodontal disease affecting both primary and permanent teeth, caused by mutations in cathepsin C (CTSC) gene
  • 3. CATHEPSIN GENE: • It is a lysosomal enzyme, coded by gene CTSC. • It is found in neutrophils and leukocytes. • It is important in protein degradation and activation of PMN and T-cells
  • 5. EXTRA ORAL: • Diffused transgredient palmer-plantar keratosis develops • Which can lead to nail dystrophy, hyperhidrosis, kertosis on elbow and knees. • Lesions may vary in color, texture, and manifestation; they appear as white, brown, red, and scaly patches which undergo crustation, cracking, and deep fissuring. • Skin lesions get aggravated during cold weather and patients experience pain when walking.
  • 6.
  • 7. ORAL MANIFESTATION: • Advanced peridontitis that is seen in both the deciduous and the permanent dentitions. • Upon eruption of the deciduous teeth, diffuse hemorrhagic and hyperplastic gingivitis develops in association with rapid loss of periodontal attachment. • Teeth appear to be floating in soft tissue radiographically due to extensive loss of osseous support. • At 4 to 5 years of age, all primary teeth typically have been lost or extracted.
  • 8.
  • 9.
  • 10. • By the age of 15, all permanent teeth have been lost in most affected individuals. • A. actinomycetemcomitans has been related directly to the periodontal destruction. • Less frequent findings are:  impaired somatic development  Ectopic calcification of the falx cerebri and coronoid plexus  Pyoderma  Pneumonia  Hepatic abscesses.
  • 11. HISTOPATHOLOGY • Hyperplastic crevicular epithelium with exocytosis. • The underlying tissue has increased vascularity and a mixed inflammatory infiltrate.