Papillon-Lefèvre 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-Lefèvre syndrome by comparing, with respect to neutrophil function, probands with Papillon-Lefèvre 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-Lefèvre 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 4 families with Papillon-Lefèvre syndrome. The means and SDs for phagocytic killing, lytic 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-Lefèvre syndrome was demonstrated with respect to neutrophil phagocytotic and lytic activity but not with respect to opsonization. Therefore, specific neutrophil dysfunction appears to be etiologically involved in this disorder. Copyright © 1999 by Mosby, Inc.