SUMMARY
1. Papillon-Lefevre syndrome is an autosomal recessive disorder associated with the following clinical features:
Hyperkeratosis of the palms and soles
Rapid premature loss of primary and permanent teeth due to severe gingival inflammation
Recurrent skin cellulitis and abscesses
2. Bacterial organisms typically cultured from areas of gingival inflammation include Actinobacillus actinomycetenicomitans, Fusobacterium nudatum, and Eikinella corrodens.
3. Patient neutrophils exhibit defective chemotaxis. Other immunologic studies are typically normal.
4. This disease is caused by mutations in the cathepsin C gene (CTSC).
5. Management includes aggressive antimicrobial therapy for oral and cutaneous infections.
OVERVIEW
Papillon-Lefevre syndrome is an autosomal recessive disorder associated with the following clinical features:
- Hyperkeratosis of the palms and soles
- Rapid premature loss of primary and permanent teeth due to severe gingival inflammation
- Recurrent skin cellulitis and abscesses
Bacterial organisms typically cultured from areas of gingival inflammation include Actinobacillus actinomycetenicomitans, Fusobacterium nudatum, and Eikinella corrodens. Patient neutrophils exhibit defective chemotaxis. Other immunologic studies are typically normal.
EVALUATION
Papillon-Lefevre syndrome should be suspected in patients presenting with hyperkeratosis of the palms and soles as well as severe gingival inflammation resulting in loss of dentition.
Step 1: Immune Evaluation
-CBC with Differential
-DHR assay
-Neutrophil Chemotaxis Asay
-The absolute neutrophil count and neutrophil function are normal but neutrophil chemotaxis is impaired.
Step 2: Gene Sequencing
-CTSC gene sequencing
-Mutational analysis of the CTSC gene can confirm the diagnosis. This testing is commercially available through Prevention Genetics (www.preventiongenetics.com).