LATE-ONSET PAPILLON-LEFEVRE SYNDROME - A CHROMOSOMIC, NEUTROPHIL FUNCTION AND MICROBIOLOGICAL STUDY

We had the opportunity to study a family with one of the most destruct ive forms of periodontal disease known, the Papillon-Lefevre syndrome. The parents had no consanguinity and were not affected, and were ther efore to be considered carriers of the disease. 2 sisters, the eldest and youngest, showed periodontal breakdown and hyperkeratotic skin les ions, but their deciduous dentition was not affected. 2 brothers had s kin lesions only and another brother and sister were healthy. Furtherm ore, 2 babies died at birth one after a 9-month pregnancy and the othe r after a 6-month pregnancy, and the mother also suffered 3 miscarriag es. For 4 years, we studied the family: in the case of both sisters, m echanical periodontal treatment and antibiotics were unable to control the disease. In the chromosomic study of the 2 sisters affected, the GTG banding technique found no trace of anomalies in the cells analyze d, whose chromosomic formation was 46,XX. Before treatment, the chemot axis of the PMN, the phagocytosis of opsonized Staphylococcus aureus, and production of superoxide radicals by PMN was significantly impaire d in both sisters. Despite scaling and root planing, the periodontal l esions still progressed, but the PMN functions evaluated were now norm al in both sisters. An orally asymptomatic but dermatologically affect ed brother showed no significant defect in the phagocytic activity and the production of superoxide radicals.