The Papillon-Lefèvre Syndrome; Report of a case and review of Japanese literature

Abstract

1. A Japanese girl, 3 years and one month old, exhibits the complete syndrome consisting of palmarplantar hyperkeratosis and severe generalized periodontitis. The parents are first-cousins. Slight hyperkeratosis has been observed on the palmae and soles of her mother and on the soles of her sister.
2. Only 9 cases (3 males and 6 females) of the syndrome, including this case, have been reported in the Japanese literature. There was definite information about consanguinity of the parents of eight cases. The parents of four of these eight cases were matings between first-cousins.
3. Two cases of the nine were sisters, but their parents were not consanguineous.
4. Siblings of the two cases showed incomplete manifestations of the syndrome. The parents of the one case were matings between first-cousins and those of the other were not.
5. Differential diagnosis and pathogenesis are discussed.