Papillon-Lefevre syndrome - Neutrophil function in 15 cases from 4 families in Egypt

Objective. The primary purpose of this study was to investigate the periodontal pathologic cause of Papillon-Lefevre syndrome by comparing, with respect to neutrophil function, probands with Papillon-Lefevre syndrome from 4 families in Egypt, unaffected siblings of the probands and age-matched and gender-matched control subjects. Study design. Family histories and clinical dermal and oral manifestations of Papillon-Lefevre syndrome were evaluated For 15 affected members of 4 families with the syndrome, 10 siblings of the probands, and 7 age-matched and gender-matched controls. Phagocytic and intracellular killing (lytic activity) of polymorphonuclear neutrophils was evaluated for all subjects according to a modification of the method of Wilkinson; opsonization was evaluated according to a modification of the methods of Cutler et al. Data were analyzed by means of analysis of variance. Results. Family pedigrees were plotted, and consanguinity was noted in 3 of the 3 families with Papillon-Lefevre syndrome. The means and SDs for phagocytic kilting, lyric activity, and opsonization indices were as follows: probands, 4.76 +/- 1.99, 0.42 +/- 0.20, and 0.84 +/- 0.07; unaffected siblings, 10.4 +/- 1.3, 3.3 +/- 0.3, and 0.84 +/- 0.07; controls, 10.8 +/- 0.8, 3.5 +/- 0.6, and 0.85 +/- 0.05. The phagocytic killing and lytic activity indices demonstrated significance between the probands and both siblings and controls (P < .0005), whereas the opsonization index did not demonstrate significance between groups. Conclusions, Significantly decreased neutrophil function in probands with Papillon-Lefevre syndrome was demonstrated with respect to neutrophil phagocytotic and lytic activity but not with respect to opsonization. Therefore, specific neutrsphil dysfunction appears to be etiologically involved in this disorder.