The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth: A clinical and genetic analysis of the Papillon-Lefèvre syndrome

Abstract

Statistical analysis of 46 well-documented cases of the syndrome of (a) hyperkeratosis palmoplantaris and (b) premature periodontoclasia has suggested that possibly an additional component should be added making the syndrome a triad: (c) calcification of the dura. The family history data are compatible with the hypothesis that the syndrome results from homozygosity for autosomal recessive genes. There is no evidence for nongenetic causes. The frequency of the disorder is estimated roughly at 1 to 4 per million persons in the general population. Careful documentation of additional cases with permit more adequate genetic analysis. The carrier frequency appears to be 2 to 4 per 1,000 population.