Papillon-Lefevre syndrome associated with albinism. Clinical and immunological study

Abstract Background: We report the first association of Papillon-Lefevre syndrome (PLS) with tyrosinase-negative albinism in two brothers. Also, we studied T-lymphocytes and mononuclear cell activity in them and in two other cases of PLS not associated with albinism. Objective: To recognize clinical and immunological correlation. Methods: Four PLS patients from 3 different families were studied clinically and immunologically. Two brothers (albino) in one family had recurrent infections. The other two patients from two other families had no infection. The patients' healthy parents were also included in the study. Results: A decreased lymphocyte proliferative response to phytohaemaglutinin and in mononuclear cell activities were detected not only in the PLS patients with recurrent pyogenic infection, but also in their healthy parents. Further investigations of these patients showed impaired humoral and cellular immune response. PLS patients with no infection and their parents showed normal immunologic parameters. Conclusion: We suggest dividing PLS on clinical and immunological bases into two variants: PLS with pyogenic infections and the other variety without such infection. PLS with pyogenic infections is associated with immunologic dysfunction. Periodontosis could not be explained on an immunological basis.