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.
