Papillon-Lefevre syndrome (keratosis palmoplantaris with periodontopathia)
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Epidemiology
- mainly detected by dentists because of severe periodontitis
Genetics
- autosomal recessive
- associated with defects in CTSC
Clinical manifestations
- severe periodontitis: both deciduous & permanent dentitions are affected, resulting in premature tooth loss
- palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis
- typically develops within the 1st 3 years of life
- keratosis also affects other sites such as elbows & knees