Papillon-Lefévre syndrome: a highly-suspected case.

ABSTRACT

Papillon-Lefévre syndrome (PLS) is characterized by severe periodontal disease extending to destruction of the alveolar bone surrounding deciduous teeth and palmoplantar hyperkeratosis of the skin. Increased susceptibility to infection has been reported among individuals with the cathepsin C (CTSC) gene mutation. This article reports a 7-year-old Japanese girl who presented with deciduous tooth mobility and was diagnosed as having PLS. Radiographic examination revealed loosening of deciduous incisors and the right second molar of the maxilla, and destruction of the alveolar bone around the residual deciduous dentition. However, there was no destruction of the alveolar bone around the permanent molars. The patient did not show the typical signs of CTSC polymorphism, which almost always negatively impacts certain activating enzymes. With respect to immune function, analysis of the patient's leukocytes indicated that H(2)O(2), chemotactic and phagocytotic functions were within the normal range. However, the special precautions normally applied to prevent infections in PLS patients undergoing dental treatment were taken.